DisGeNET - a database of gene-disease associations

rs200620134, CASR

N. diseases: 1

Source: CURATED ×

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Hypocalciuric hypercalcemia, familial, type 1

CUI:	C0342637
Disease:	Hypocalciuric hypercalcemia, familial, type 1

42

1.000

0.040

3

122284869

missense variant

C/T

snv

4.4E-05

1.4E-05

0.800