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rs752088918

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs752088918(-;-)
Make rs752088918(-;AT)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position14167223
GeneXPC
is asnp
is mentioned by
dbSNPrs752088918
dbSNP (classic)rs752088918
ClinGenrs752088918
ebirs752088918
HLIrs752088918
Exacrs752088918
Gnomadrs752088918
Varsomers752088918
LitVarrs752088918
Maprs752088918
PheGenIrs752088918
Biobankrs752088918
1000 genomesrs752088918
hgdprs752088918
ensemblrs752088918
geneviewrs752088918
scholarrs752088918
googlers752088918
pharmgkbrs752088918
gwascentralrs752088918
openSNPrs752088918
23andMers752088918
SNPshotrs752088918
SNPdbers752088918
MSV3drs752088918
GWAS Ctlgrs752088918
Max Magnitude0
ClinVar
Risk rs752088918(-;-)
Alt rs752088918(-;-)
Reference Rs752088918(AT;AT)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPC
CLNDBN Xeroderma pigmentosum, group C
Reversed 0
HGVS NC_000003.11:g.14208723_14208724delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000282.2,