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rs104894132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894132(C;T)
Make rs104894132(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position97675579
GeneXPA
is asnp
is mentioned by
dbSNPrs104894132
dbSNP (classic)rs104894132
ClinGenrs104894132
ebirs104894132
HLIrs104894132
Exacrs104894132
Gnomadrs104894132
Varsomers104894132
LitVarrs104894132
Maprs104894132
PheGenIrs104894132
Biobankrs104894132
1000 genomesrs104894132
hgdprs104894132
ensemblrs104894132
geneviewrs104894132
scholarrs104894132
googlers104894132
pharmgkbrs104894132
gwascentralrs104894132
openSNPrs104894132
23andMers104894132
SNPshotrs104894132
SNPdbers104894132
MSV3drs104894132
GWAS Ctlgrs104894132
Max Magnitude0
OMIM611153
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894132(T;T)
Alt rs104894132(T;T)
Reference Rs104894132(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPA
CLNDBN Xeroderma pigmentosum, type 1
Reversed 1
HGVS NC_000009.11:g.100437861G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001050.3,