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rs72558200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72558200(A;A)
Make rs72558200(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position99836125
GeneABCC2
is asnp
is mentioned by
dbSNPrs72558200
dbSNP (classic)rs72558200
ClinGenrs72558200
ebirs72558200
HLIrs72558200
Exacrs72558200
Gnomadrs72558200
Varsomers72558200
LitVarrs72558200
Maprs72558200
PheGenIrs72558200
Biobankrs72558200
1000 genomesrs72558200
hgdprs72558200
ensemblrs72558200
geneviewrs72558200
scholarrs72558200
googlers72558200
pharmgkbrs72558200
gwascentralrs72558200
openSNPrs72558200
23andMers72558200
SNPshotrs72558200
SNPdbers72558200
MSV3drs72558200
GWAS Ctlgrs72558200
Max Magnitude0
OMIM601107
Desc
Variant0008
Relatedalso


ClinVar
Risk rs72558200(A;A)
Alt rs72558200(A;A)
Reference Rs72558200(G;G)
Significance Pathogenic
Disease Dubin-Johnson syndrome
Variation info
Gene ABCC2
CLNDBN Dubin-Johnson syndrome
Reversed 0
HGVS NC_000010.10:g.101595882G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008930.5,