DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Pseudohypoparathyroidism, Type Ia ×

Results per page

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:

rs137854532

rs137854532

GNAS

0.882

0.160

20

58905443

missense variant

C/T

snv

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.800

1.000

1993

2015

dbSNP:

rs137854531

rs137854531

GNAS

1.000

0.120

20

58903569

missense variant

T/C

snv

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.800

1.000

1993

2005

dbSNP:

rs137854534

rs137854534

GNAS

1.000

0.120

20

58909715

missense variant

C/G

snv

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.800

1.000

1993

2005

dbSNP:

rs137854538

rs137854538

GNAS

1.000

0.120

20

58909553

missense variant

G/A

snv

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.800

1.000

1993

2005

dbSNP:

rs137854539

rs137854539

GNAS

0.716

0.520

20

58903703

missense variant

C/T

snv

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.800

1.000

1993

2005

dbSNP:

rs797045046

rs797045046

GNAS

0.925

0.120

20

58891760

stop gained

C/G;T

snv

5.0E-06

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.700

1.000

2000

2016

dbSNP:

rs1057518907

rs1057518907

GNAS

0.732

0.320

20

58891811

stop gained

C/G;T

snv

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.700

dbSNP:

rs1135401777

rs1135401777

GNAS

0.925

0.120

20

58853740

missense variant

G/A

snv

7.0E-06

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.700

dbSNP:

rs137854530

rs137854530

GNAS

0.776

0.240

20

58891727

start lost

A/G;T

snv

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.700

dbSNP:

rs587776829

rs587776829

GNAS

0.882

0.200

20

58909194

frameshift variant

GACT/-

delins

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.700

dbSNP:

rs863224876

rs863224876

GNAS

0.925

0.120

20

58909991

stop gained

C/T

snv

CUI:	C3494506
Disease:	Pseudohypoparathyroidism, Type Ia

Pseudohypoparathyroidism, Type Ia

0.700