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rs794729657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794729657(A;G)
Make rs794729657(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position14168404
GeneXPC
is asnp
is mentioned by
dbSNPrs794729657
dbSNP (classic)rs794729657
ClinGenrs794729657
ebirs794729657
HLIrs794729657
Exacrs794729657
Gnomadrs794729657
Varsomers794729657
LitVarrs794729657
Maprs794729657
PheGenIrs794729657
Biobankrs794729657
1000 genomesrs794729657
hgdprs794729657
ensemblrs794729657
geneviewrs794729657
scholarrs794729657
googlers794729657
pharmgkbrs794729657
gwascentralrs794729657
openSNPrs794729657
23andMers794729657
SNPshotrs794729657
SNPdbers794729657
MSV3drs794729657
GWAS Ctlgrs794729657
Max Magnitude0
ClinVar
Risk rs794729657(C;C) rs794729657(G;G)
Alt rs794729657(C;C) rs794729657(G;G)
Reference Rs794729657(A;A)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPC
CLNDBN Xeroderma pigmentosum, group C
Reversed 1
HGVS NC_000003.11:g.14209904T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000285.2,