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rs104894134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894134(A;A)
Make rs104894134(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position97689575
GeneXPA
is asnp
is mentioned by
dbSNPrs104894134
dbSNP (classic)rs104894134
ClinGenrs104894134
ebirs104894134
HLIrs104894134
Exacrs104894134
Gnomadrs104894134
Varsomers104894134
LitVarrs104894134
Maprs104894134
PheGenIrs104894134
Biobankrs104894134
1000 genomesrs104894134
hgdprs104894134
ensemblrs104894134
geneviewrs104894134
scholarrs104894134
googlers104894134
pharmgkbrs104894134
gwascentralrs104894134
openSNPrs104894134
23andMers104894134
SNPshotrs104894134
SNPdbers104894134
MSV3drs104894134
GWAS Ctlgrs104894134
Max Magnitude0
OMIM611153
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894134(A;A) rs104894134(C;C)
Alt rs104894134(A;A) rs104894134(C;C)
Reference Rs104894134(T;T)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPA
CLNDBN Xeroderma pigmentosum, type 1
Reversed 1
HGVS NC_000009.11:g.100451857A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001052.2,