DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Vitamin D-Dependent Rickets, Type 2A ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs121909790

rs121909790

VDR

1.000

0.200

12

47879016

missense variant

C/G;T

snv

4.0E-06

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs121909793

rs121909793

VDR

1.000

0.200

12

47865085

missense variant

C/T

snv

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs121909794

rs121909794

VDR

1.000

0.200

12

47865175

missense variant

C/T

snv

8.0E-06

2.1E-05

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs121909796

rs121909796

VDR

0.827

0.200

12

47846743

missense variant

C/A

snv

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs121909797

rs121909797

VDR

1.000

0.200

12

47878977

missense variant

C/A;G;T

snv

2.4E-05; 4.0E-06

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs121909798

rs121909798

VDR

0.925

0.200

12

47846444

missense variant

G/C

snv

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs121909799

rs121909799

VDR

0.925

0.200

12

47846418

missense variant

A/C

snv

5.4E-06

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs121909800

rs121909800

VDR

0.807

0.360

12

47844859

missense variant

G/A;T

snv

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs267607169

rs267607169

VDR

1.000

0.200

12

47844994

missense variant

C/T

snv

4.0E-06

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.800

1.000

1988

2017

dbSNP:

rs121909801

rs121909801

VDR

0.925

0.200

12

47879026

stop gained

G/A;C

snv

1.6E-05

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.710

1.000

2017

2017

dbSNP:

rs121909791

rs121909791

VDR

1.000

0.200

12

47865106

missense variant

C/T

snv

3.6E-05

3.5E-05

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.700

1.000

1988

2017

dbSNP:

rs121909792

rs121909792

VDR

1.000

0.200

12

47846679

stop gained

G/T

snv

4.0E-06

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.700

dbSNP:

rs121909795

rs121909795

VDR

1.000

0.200

12

47857512

stop gained

G/A

snv

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.700

dbSNP:

rs121909802

rs121909802

VDR

1.000

0.200

12

47846374

stop gained

C/A;T

snv

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.700

dbSNP:

rs886037890

rs886037890

VDR

0.925

0.200

12

47844840

missense variant

T/G

snv

CUI:	C0342646
Disease:	Vitamin D-Dependent Rickets, Type 2A

Vitamin D-Dependent Rickets, Type 2A

0.700