Variant Results

or

Results for "TCF7L2"

Variant Events: 80

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

TCF7L2

5-0065-003

chr10:
115131912-115131912

C

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

2-1350-003

chr10:
114867298-114867298

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF7L2

AU3906301

chr10:
115068003-115068003

T

C

intergenic

De novo

-

Yuen2017 G

TCF7L2

MCD-005-3

chr10:
114849211-114849211

C

A

exonic

Both parents

nonsynonymous SNV

NM_001146283

c.C536A

p.P179H

16.23

2.0E-4

Tuncay2023 G

TCF7L2

13069.p1

chr10:
114901076-114901076

G

A

splicing

Mosaic, De novo

splicing

29.5

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Turner2016 G
Turner2017 G
Wang2020 T
Zhou2022 GE

TCF7L2

12090.p1

chr10:
114910883-114910883

G

A

splicing

Mosaic, De novo

splicing

19.91

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

TCF7L2

AU4219302

chr10:
114722696-114722696

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF7L2

2-0219-004

chr10:
115054030-115054030

T

C

intergenic

De novo

-

Yuen2017 G

TCF7L2

2-1138-003

chr10:
114929682-114929682

C

A

intergenic

De novo

-

Yuen2017 G

TCF7L2

2-0219-004

chr10:
114920870-114920870

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF7L2

7-0249-004

chr10:
115225853-115225853

A

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

1-0126-003

chr10:
115075225-115075225

C

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

AU1933302

chr10:
115248576-115248576

C

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

AU4013302

chr10:
114806972-114806972

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF7L2

11520.p1

chr10:
115087888-115087888

C

A

intergenic

De novo

-

Werling2018 G

TCF7L2

7-0255-003

chr10:
115217203-115217203

T

C

intergenic

De novo

-

Yuen2017 G

TCF7L2

Lim2017:35906

chr10:
114910883-114910883

G

A

splicing

De novo

splicing

19.91

-

Lim2017 E

TCF7L2

2-1330-003

chr10:
115168608-115168608

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TCF7L2

7-0223-003

chr10:
115105994-115106000

GAAAAAA

GAAAA

intergenic

De novo

-

Yuen2017 G

TCF7L2

1-0368-004

chr10:
114920669-114920669

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF7L2

3-0246-000

chr10:
114716580-114716580

A

G

intronic

De novo

-

Yuen2017 G

TCF7L2

3-0059-000

chr10:
114724576-114724576

G

T

intronic

De novo

-

Trost2022 G

TCF7L2

MSSNG00444-003

chr10:
114724576-114724576

G

T

intronic

De novo

-

Trost2022 G

TCF7L2

MT_166.3

chr10:
114718064-114718064

A

G

intronic

De novo

-

Trost2022 G

TCF7L2

AU4197301

chr10:
115061504-115061504

C

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

7-0094-004

chr10:
114862326-114862326

C

T

intronic

De novo

-

Trost2022 G

TCF7L2

7-0354-004

chr10:
114881896-114881896

A

G

intronic

De novo

-

Trost2022 G

TCF7L2

3-0713-000

chr10:
114857905-114857905

C

T

intronic

De novo

-

Trost2022 G

TCF7L2

2-1327-004

chr10:
115183394-115183394

C

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

5-5004-003

chr10:
114862194-114862194

T

G

intronic

De novo

-

Trost2022 G

TCF7L2

2-1744-003

chr10:
114850461-114850461

C

T

intronic

De novo

-

Trost2022 G

TCF7L2

SJD_34.3

chr10:
114856957-114856957

G

A

intronic

De novo

-

Trost2022 G

TCF7L2

REACH000419

chr10:
114724576-114724576

G

T

intronic

De novo

-

Trost2022 G

TCF7L2

SSC08927

chr10:
114849308-114849308

C

T

intronic

De novo

-

6.733E-5

Trost2022 G

TCF7L2

7-0253-003

chr10:
115297342-115297342

G

A

intergenic

De novo

-

Yuen2017 G

TCF7L2

AU3605303

chr10:
115164626-115164663

CTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT

CTTTTTTTTT

intergenic

De novo

-

Yuen2017 G

TCF7L2

AU3918302

chr10:
114769237-114769237

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF7L2

SJD_75.3

chr10:
114908518-114908518

G

A

intronic

De novo

-

Trost2022 G

TCF7L2

1-0566-003

chr10:
114982065-114982065

G

A

intergenic

De novo

-

Yuen2017 G

TCF7L2

7-0462-004

chr10:
114909618-114909618

T

C

intronic

De novo

-

Trost2022 G

TCF7L2

13888.p1

chr10:
114849308-114849308

C

T

intronic

De novo

-

6.733E-5

Krumm2015 E
Satterstrom2020 E

TCF7L2

SF0048058.p1

chr10:
114919742-114919742

G

A

exonic

nonsynonymous SNV

NM_001146285
NM_001198525
NM_001198527
NM_001198528
NM_030756

c.G1313A
c.G1379A
c.G1352A
c.G1364A
c.G1364A

p.G438D
p.G460D
p.G451D
p.G455D
p.G455D

13.45

-

Wang2020 T

TCF7L2

M32029

chr10:
114925726-114925726

G

T

exonic

Paternal

stopgain

NM_001146285
NM_001198526
NM_001146274
NM_030756

c.G1735T
c.G1735T
c.G1804T
c.G1786T

p.E579X
p.E579X
p.E602X
p.E596X

42.0

-

Guo2018 T

TCF7L2

ACGC_M32029

chr10:
114925726-114925726

G

T

exonic

Paternal

stopgain

NM_001146285
NM_001198526
NM_001146274
NM_030756

c.G1735T
c.G1735T
c.G1804T
c.G1786T

p.E579X
p.E579X
p.E602X
p.E596X

42.0

-

Wang2020 T

TCF7L2

SF0070682.p1

chr10:
114912173-114912173

C

G

exonic

nonsynonymous SNV

NM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531

c.C1072G
c.C1162G
c.C1174G
c.C1174G
c.C1189G
c.C1174G
c.C1162G
c.C1174G
c.C1174G
c.C1174G
c.C1243G
c.C1315G
c.C1243G

p.P358A
p.P388A
p.P392A
p.P392A
p.P397A
p.P392A
p.P388A
p.P392A
p.P392A
p.P392A
p.P415A
p.P439A
p.P415A

31.0

-

Wang2020 T

TCF7L2

SF0022463.p1

chr10:
114799783-114799783

G

C

splicing

21.0

-

Wang2020 T

TCF7L2

Greenwood_Cms23003a

chr10:
114910819-114910819

C

A

exonic

Unknown

nonsynonymous SNV

NM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531

c.C767A
c.C857A
c.C869A
c.C869A
c.C884A
c.C869A
c.C857A
c.C869A
c.C869A
c.C869A
c.C938A
c.C1010A
c.C938A

p.A256D
p.A286D
p.A290D
p.A290D
p.A295D
p.A290D
p.A286D
p.A290D
p.A290D
p.A290D
p.A313D
p.A337D
p.A313D

27.6

-

Wang2020 T

TCF7L2

ACGC_HEN494.p1

chr10:
114903718-114903718

C

T

exonic

Unknown

nonsynonymous SNV

NM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531

c.C551T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C722T
c.C794T
c.C722T

p.P184L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P241L
p.P265L
p.P241L

25.4

-

Wang2020 T

TCF7L2

Leuven2_60244430

chr10:
114925406-114925406

C

A

exonic

Unknown

nonsynonymous SNV

NM_001146285
NM_001198526
NM_001146274
NM_030756

c.C1415A
c.C1415A
c.C1484A
c.C1466A

p.P472H
p.P472H
p.P495H
p.P489H

18.16

0.0025

Wang2020 T

TCF7L2

2-1278-003

chr10:
115149186-115149186

G

A

intergenic

De novo

-

Yuen2017 G

TCF7L2

TASC_219-2316-0001

chr10:
114910852-114910852

C

T

exonic

Unknown

nonsynonymous SNV

NM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531

c.C800T
c.C890T
c.C902T
c.C902T
c.C917T
c.C902T
c.C890T
c.C902T
c.C902T
c.C902T
c.C971T
c.C1043T
c.C971T

p.S267F
p.S297F
p.S301F
p.S301F
p.S306F
p.S301F
p.S297F
p.S301F
p.S301F
p.S301F
p.S324F
p.S348F
p.S324F

24.0

-

Wang2020 T

TCF7L2

SanDiego_00963-V9V2W

chr10:
114925334-114925334

G

T

exonic

Unknown

nonsynonymous SNV

NM_001198530
NM_001146286
NM_001146283
NM_001146284
NM_001146285
NM_001198526
NM_001198529
NM_001198531
NM_001146274
NM_030756

c.G1168T
c.G1270T
c.G1411T
c.G1309T
c.G1343T
c.G1343T
c.G1321T
c.G1339T
c.G1412T
c.G1394T

p.A390S
p.A424S
p.A471S
p.A437S
p.R448L
p.R448L
p.A441S
p.A447S
p.R471L
p.R465L

28.4

-

Wang2020 T

TCF7L2

A12

chr10:
114909589-114909589

T

C

intronic

De novo

-

Wu2018 G

TCF7L2

ACGC_HEN0392.p1

chr10:
114903688-114903688

C

T

exonic

Unknown

nonsynonymous SNV

NM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531

c.C521T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C692T
c.C764T
c.C692T

p.P174L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P231L
p.P255L
p.P231L

22.8

-

Wang2020 T

TCF7L2

Greenwood_Cms23872

chr10:
114799823-114799823

G

A

exonic

Unknown

nonsynonymous SNV

NM_001146283
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001198531

c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G490A
c.G490A

p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G164R
p.G164R

33.0

-

Wang2020 T

TCF7L2

1-0497-003

chr10:
115291713-115291713

C

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

3-0469-000

chr10:
115141037-115141037

C

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

Leuven_225991

chr10:
114925475-114925475

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146285
NM_001198526
NM_001146274
NM_030756

c.C1484T
c.C1484T
c.C1553T
c.C1535T

p.S495L
p.S495L
p.S518L
p.S512L

20.3

2.499E-5

Wang2020 T

TCF7L2

14522.p1

chr10:
115263958-115263958

G

A

intergenic

De novo

-

Werling2018 G

TCF7L2

SAGE_BK877-01

chr10:
114925406-114925406

C

A

exonic

Unknown

nonsynonymous SNV

NM_001146285
NM_001198526
NM_001146274
NM_030756

c.C1415A
c.C1415A
c.C1484A
c.C1466A

p.P472H
p.P472H
p.P495H
p.P489H

18.16

0.0025

Wang2020 T

TCF7L2

SSC12283

chr10:
114910883-114910883

G

A

splicing

19.91

-

Antaki2022 GE

TCF7L2

SSC07122

chr10:
114901076-114901076

G

A

splicing

29.5

-

Antaki2022 GE

TCF7L2

13069_p1

chr10:
114901076-114901076

G

A

splicing

De novo

splicing

29.5

-

Fu2022 E

TCF7L2

SP0070682

chr10:
114912173-114912173

C

G

exonic

De novo

nonsynonymous SNV

NM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531

c.C1072G
c.C1162G
c.C1174G
c.C1174G
c.C1189G
c.C1174G
c.C1162G
c.C1174G
c.C1174G
c.C1174G
c.C1243G
c.C1315G
c.C1243G

p.P358A
p.P388A
p.P392A
p.P392A
p.P397A
p.P392A
p.P388A
p.P392A
p.P392A
p.P392A
p.P415A
p.P439A
p.P415A

31.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TCF7L2

3-0469-000

chr10:
115150394-115150394

A

G

intergenic

De novo

-

Yuen2017 G

TCF7L2

AU2793303

chr10:
115013073-115013073

A

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

Wang2023:330

chr10:
114849270-114849270

C

G

exonic

De novo

nonsynonymous SNV

NM_001146283

c.C595G

p.Q199E

1.301

-

Wang2023 E

TCF7L2

SP0041721

chr10:
114886686-114886686

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

TCF7L2

SP0022463

chr10:
114799783-114799783

G

C

splicing

De novo

splicing

21.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TCF7L2

AU1448301

chr10:
115207583-115207583

T

C

intergenic

De novo

-

Yuen2017 G

TCF7L2

SP0048058

chr10:
114919742-114919742

G

A

exonic

De novo

nonsynonymous SNV

NM_001146285
NM_001198525
NM_001198527
NM_001198528
NM_030756

c.G1313A
c.G1379A
c.G1352A
c.G1364A
c.G1364A

p.G438D
p.G460D
p.G451D
p.G455D
p.G455D

13.45

-

Fu2022 E
Zhou2022 GE

TCF7L2

35906

chr10:
114910883-114910883

G

A

splicing

De novo

splicing

19.91

-

Fu2022 E
Trost2022 G

TCF7L2

AU1742302

chr10:
114948275-114948275

G

A

intergenic

De novo

-

Yuen2017 G

TCF7L2

1-0652-004

chr10:
115217675-115217675

G

A

intergenic

De novo

-

Yuen2017 G

TCF7L2

2-1246-003

chr10:
115055447-115055447

G

GACTCCAC

intergenic

De novo

-

Yuen2017 G

TCF7L2

219-2316-0001

chr10:
114910852-114910852

C

T

exonic

Unknown

nonsynonymous SNV

NM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531

c.C800T
c.C890T
c.C902T
c.C902T
c.C917T
c.C902T
c.C890T
c.C902T
c.C902T
c.C902T
c.C971T
c.C1043T
c.C971T

p.S267F
p.S297F
p.S301F
p.S301F
p.S306F
p.S301F
p.S297F
p.S301F
p.S301F
p.S301F
p.S324F
p.S348F
p.S324F

24.0

-

Stessman2017 T

TCF7L2

AU3861303

chr10:
115072701-115072701

G

A

intergenic

De novo

-

Yuen2017 G

TCF7L2

2-1397-003

chr10:
114753264-114753287

CAAAAAAAGAAAAAAAAAAGAAAA

CAAAAAAAGAAAA

intronic

De novo

-

Yuen2017 G

TCF7L2

1-0453-003

chr10:
115268362-115268362

A

T

intergenic

De novo

-

Yuen2017 G

TCF7L2

1-0079-008

chr10:
115197559-115197559

G

A

intergenic

De novo

-

Yuen2017 G

Source Variant Information

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Source:

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Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
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