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rs786200920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200920(-;-)
Make rs786200920(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position102862643
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs786200920
dbSNP (classic)rs786200920
ClinGenrs786200920
ebirs786200920
HLIrs786200920
Exacrs786200920
Gnomadrs786200920
Varsomers786200920
LitVarrs786200920
Maprs786200920
PheGenIrs786200920
Biobankrs786200920
1000 genomesrs786200920
hgdprs786200920
ensemblrs786200920
geneviewrs786200920
scholarrs786200920
googlers786200920
pharmgkbrs786200920
gwascentralrs786200920
openSNPrs786200920
23andMers786200920
SNPshotrs786200920
SNPdbers786200920
MSV3drs786200920
GWAS Ctlgrs786200920
Max Magnitude0
ClinVar
Risk rs786200920(-;-)
Alt rs786200920(-;-)
Reference Rs786200920(A;A)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Xeroderma pigmentosum, group G
Reversed 0
HGVS NC_000013.10:g.103514993delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018043.29,