DisGeNET - a database of gene-disease associations

ABCB6, ATP binding cassette subfamily B member 6 (Langereis blood group), 10058

N. diseases: 400; N. variants: 19

Disease: Blood group antigen abnormality ×

Source: ALL

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs765925019

219216027

frameshift variant

GATCCGC/-;GATCCGCGATCCGC

delins

3.0E-05

CUI:	C4023620
Disease:	Blood group antigen abnormality

Blood group antigen abnormality

0.700

dbSNP:

rs879255549

219213503

splice acceptor variant

C/T

snv

CUI:	C4023620
Disease:	Blood group antigen abnormality

Blood group antigen abnormality

0.700