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rs786200919

From SNPedia

Orientationplus
Geno Mag Summary
(AGGA;AGGA) 0 common in clinvar
Make rs786200919(-;-)
Make rs786200919(-;GGAA)
Make rs786200919(GGAA;GGAA)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position102862264
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs786200919
ebirs786200919
HLIrs786200919
Exacrs786200919
Varsomers786200919
Maprs786200919
PheGenIrs786200919
hapmaprs786200919
1000 genomesrs786200919
hgdprs786200919
ensemblrs786200919
gopubmedrs786200919
geneviewrs786200919
scholarrs786200919
googlers786200919
pharmgkbrs786200919
gwascentralrs786200919
openSNPrs786200919
23andMers786200919
23andMe allrs786200919
SNP Nexus

SNPshotrs786200919
SNPdbers786200919
MSV3drs786200919
GWAS Ctlgrs786200919
Max Magnitude0
ClinVar
Risk rs786200919(;)
Alt rs786200919(;)
Reference rs786200919(AGGA;AGGA)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Xeroderma pigmentosum, group G
Reversed 0
HGVS NC_000013.10:g.103514614_103514617delGGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018042.25,