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rs11554495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs11554495(G;T)
Make rs11554495(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position52904798
GeneKRT8
is asnp
is mentioned by
dbSNPrs11554495
dbSNP (classic)rs11554495
ClinGenrs11554495
ebirs11554495
HLIrs11554495
Exacrs11554495
Gnomadrs11554495
Varsomers11554495
LitVarrs11554495
Maprs11554495
PheGenIrs11554495
Biobankrs11554495
1000 genomesrs11554495
hgdprs11554495
ensemblrs11554495
geneviewrs11554495
scholarrs11554495
googlers11554495
pharmgkbrs11554495
gwascentralrs11554495
openSNPrs11554495
23andMers11554495
SNPshotrs11554495
SNPdbers11554495
MSV3drs11554495
GWAS Ctlgrs11554495
GMAF0.002755
Max Magnitude0
OMIM148060
DescCIRRHOSIS, CRYPTOGENIC
Variant0001
Relatedalso


ClinVar
Risk rs11554495(T;T)
Alt rs11554495(T;T)
Reference Rs11554495(G;G)
Significance Other
Disease Cirrhosis not provided
Variation info
Gene KRT8
CLNDBN Cirrhosis, cryptogenic Cirrhosis, noncryptogenic, susceptibility to not provided
Reversed 1
HGVS NC_000012.11:g.53298582C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015735.25, RCV000015736.2, RCV000056938.1,