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rs121965088

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965088(C;T)
Make rs121965088(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position14158148
GeneXPC
is asnp
is mentioned by
dbSNPrs121965088
ebirs121965088
HLIrs121965088
Exacrs121965088
Varsomers121965088
Maprs121965088
PheGenIrs121965088
hapmaprs121965088
1000 genomesrs121965088
hgdprs121965088
ensemblrs121965088
gopubmedrs121965088
geneviewrs121965088
scholarrs121965088
googlers121965088
pharmgkbrs121965088
gwascentralrs121965088
openSNPrs121965088
23andMers121965088
23andMe allrs121965088
SNP Nexus

SNPshotrs121965088
SNPdbers121965088
MSV3drs121965088
GWAS Ctlgrs121965088
GMAF0.0004591
Max Magnitude0
OMIM613208
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121965088(T;T)
Alt rs121965088(T;T)
Reference rs121965088(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPC
CLNDBN Xeroderma pigmentosum, group C
Reversed 1
HGVS NC_000003.11:g.14199648G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000283.2,