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rs1057519018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057519018(-;-)
Make rs1057519018(-;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position97684947
GeneXPA
is asnp
is mentioned by
dbSNPrs1057519018
dbSNP (old)rs1057519018
ClinGenrs1057519018
ebirs1057519018
HLIrs1057519018
Exacrs1057519018
Gnomadrs1057519018
Varsomers1057519018
Maprs1057519018
PheGenIrs1057519018
Biobankrs1057519018
1000 genomesrs1057519018
hgdprs1057519018
ensemblrs1057519018
gopubmedrs1057519018
geneviewrs1057519018
scholarrs1057519018
googlers1057519018
pharmgkbrs1057519018
gwascentralrs1057519018
openSNPrs1057519018
23andMers1057519018
23andMe allrs1057519018
SNPshotrs1057519018
SNPdbers1057519018
MSV3drs1057519018
GWAS Ctlgrs1057519018
Max Magnitude0
ClinVar
Risk rs1057519018(-;-)
Alt rs1057519018(-;-)
Reference Rs1057519018(GA;GA)
Significance Probable-Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPA
CLNDBN Xeroderma pigmentosum, type 1
Reversed 1
HGVS NC_000009.11:g.100447229_100447230delTC
CLNSRC
CLNACC RCV000415712.1,