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rs34719006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs34719006(A;A)
Make rs34719006(A;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position57706561
GeneATP8B1
is asnp
is mentioned by
dbSNPrs34719006
ebirs34719006
HLIrs34719006
Exacrs34719006
Varsomers34719006
Maprs34719006
PheGenIrs34719006
hapmaprs34719006
1000 genomesrs34719006
hgdprs34719006
ensemblrs34719006
gopubmedrs34719006
geneviewrs34719006
scholarrs34719006
googlers34719006
pharmgkbrs34719006
gwascentralrs34719006
openSNPrs34719006
23andMers34719006
23andMe allrs34719006
SNP Nexus

SNPshotrs34719006
SNPdbers34719006
MSV3drs34719006
GWAS Ctlgrs34719006
Merged fromRs121909102
GMAF0.003673
Max Magnitude0
OMIM602397
Desc
Variant0010
Relatedalso
ClinVar
Risk rs34719006(A,T;A,T)
Alt rs34719006(A,T;A,T)
Reference rs34719006(G;G)
Significance Pathogenic
Disease Cholestasis of pregnancy not provided
Variation info
Gene ATP8B1
CLNDBN Cholestasis of pregnancy not provided
Reversed 1
HGVS NC_000018.9:g.55373793C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007694.2, RCV000177233.1,


GET Evidence
ATP8B1-D70N
aa_change Asp70Asn
aa_change_short D70N
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00204575
summary