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rs56199535

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs56199535(C;T)
Make rs56199535(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position99818820
GeneABCC2
is asnp
is mentioned by
dbSNPrs56199535
dbSNP (classic)rs56199535
ClinGenrs56199535
ebirs56199535
HLIrs56199535
Exacrs56199535
Gnomadrs56199535
Varsomers56199535
LitVarrs56199535
Maprs56199535
PheGenIrs56199535
Biobankrs56199535
1000 genomesrs56199535
hgdprs56199535
ensemblrs56199535
geneviewrs56199535
scholarrs56199535
googlers56199535
pharmgkbrs56199535
gwascentralrs56199535
openSNPrs56199535
23andMers56199535
SNPshotrs56199535
SNPdbers56199535
MSV3drs56199535
GWAS Ctlgrs56199535
GMAF0.0004591
Max Magnitude0
OMIM601107
Desc
Variant0001
Relatedalso


ClinVar
Risk rs56199535(A;A) rs56199535(G;G) rs56199535(T;T)
Alt rs56199535(A;A) rs56199535(G;G) rs56199535(T;T)
Reference Rs56199535(C;C)
Significance Pathogenic
Disease Dubin-Johnson syndrome
Variation info
Gene ABCC2
CLNDBN Dubin-Johnson syndrome
Reversed 0
HGVS NC_000010.10:g.101578577C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008923.5,