DisGeNET - a database of gene-disease associations

ATP6V1B2, ATPase H+ transporting V1 subunit B2, 526

N. diseases: 101; N. variants: 5

Disease: ZIMMERMANN-LABAND SYNDROME 1 ×

Variant: rs730882177 ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs730882177

rs730882177

Entrez Id:	526
Gene Symbol:	ATP6V1B2

ATP6V1B2

CUI:	C4551773
Disease:

ZIMMERMANN-LABAND SYNDROME 1

C

0.700

CausalMutation

CLINVAR