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rs57749775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57749775(C;C)
Make rs57749775(C;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position52904822
GeneKRT8
is asnp
is mentioned by
dbSNPrs57749775
ebirs57749775
HLIrs57749775
Exacrs57749775
Varsomers57749775
Maprs57749775
PheGenIrs57749775
hapmaprs57749775
1000 genomesrs57749775
hgdprs57749775
ensemblrs57749775
gopubmedrs57749775
geneviewrs57749775
scholarrs57749775
googlers57749775
pharmgkbrs57749775
gwascentralrs57749775
openSNPrs57749775
23andMers57749775
23andMe allrs57749775
SNP Nexus

SNPshotrs57749775
SNPdbers57749775
MSV3drs57749775
GWAS Ctlgrs57749775
GMAF0.002755
Max Magnitude0
OMIM148060
Desc
Variant0002
Relatedalso


ClinVar
Risk rs57749775(A,C;A,C)
Alt rs57749775(A,C;A,C)
Reference rs57749775(T;T)
Significance Pathogenic
Disease Cirrhosis not provided
Variation info
Gene KRT8
CLNDBN Cirrhosis, cryptogenic not provided
Reversed 1
HGVS NC_000012.11:g.53298606A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015737.25, RCV000056936.1,



GET Evidence
KRT8-Y54H
aa_change Tyr54His
aa_change_short Y54H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00546757
summary