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rs104894131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894131(G;T)
Make rs104894131(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position97689600
GeneXPA
is asnp
is mentioned by
dbSNPrs104894131
ebirs104894131
HLIrs104894131
Exacrs104894131
Varsomers104894131
Maprs104894131
PheGenIrs104894131
hapmaprs104894131
1000 genomesrs104894131
hgdprs104894131
ensemblrs104894131
gopubmedrs104894131
geneviewrs104894131
scholarrs104894131
googlers104894131
pharmgkbrs104894131
gwascentralrs104894131
openSNPrs104894131
23andMers104894131
23andMe allrs104894131
SNP Nexus

SNPshotrs104894131
SNPdbers104894131
MSV3drs104894131
GWAS Ctlgrs104894131
Max Magnitude0
OMIM611153
Desc
Variant0002
Relatedalso
[PMID 22190868OA-icon.png] Exploration of structural stability in deleterious nsSNPs of the XPA gene: A molecular dynamics approach
ClinVar
Risk rs104894131(T;T)
Alt rs104894131(T;T)
Reference rs104894131(G;G)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPA
CLNDBN Xeroderma pigmentosum, type 1
Reversed 1
HGVS NC_000009.11:g.100451882C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001048.2,