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rs794729654

From SNPedia

Orientationminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs794729654(-;-)
Make rs794729654(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position14158590
GeneXPC
is asnp
is mentioned by
dbSNPrs794729654
ebirs794729654
HLIrs794729654
Exacrs794729654
Varsomers794729654
Maprs794729654
PheGenIrs794729654
hapmaprs794729654
1000 genomesrs794729654
hgdprs794729654
ensemblrs794729654
gopubmedrs794729654
geneviewrs794729654
scholarrs794729654
googlers794729654
pharmgkbrs794729654
gwascentralrs794729654
openSNPrs794729654
23andMers794729654
23andMe allrs794729654
SNP Nexus

SNPshotrs794729654
SNPdbers794729654
MSV3drs794729654
GWAS Ctlgrs794729654
Max Magnitude0
ClinVar
Risk rs794729654(;)
Alt rs794729654(;)
Reference rs794729654(AA;AA)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPC
CLNDBN Xeroderma pigmentosum, group C
Reversed 1
HGVS NC_000003.11:g.14200090_14200091delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000280.2,