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rs104894133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894133(C;T)
Make rs104894133(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position97684977
GeneXPA
is asnp
is mentioned by
dbSNPrs104894133
ebirs104894133
HLIrs104894133
Exacrs104894133
Varsomers104894133
Maprs104894133
PheGenIrs104894133
hapmaprs104894133
1000 genomesrs104894133
hgdprs104894133
ensemblrs104894133
gopubmedrs104894133
geneviewrs104894133
scholarrs104894133
googlers104894133
pharmgkbrs104894133
gwascentralrs104894133
openSNPrs104894133
23andMers104894133
23andMe allrs104894133
SNP Nexus

SNPshotrs104894133
SNPdbers104894133
MSV3drs104894133
GWAS Ctlgrs104894133
Max Magnitude0
OMIM611153
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894133(T;T)
Alt rs104894133(T;T)
Reference rs104894133(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPA
CLNDBN Xeroderma pigmentosum, type 1
Reversed 1
HGVS NC_000009.11:g.100447259G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001051.2,