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rs754532049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
(I;I) 0 common genotype
Make rs754532049(-;-)
Make rs754532049(-;CA)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position14158239
GeneXPC
is asnp
is mentioned by
dbSNPrs754532049
dbSNP (classic)rs754532049
ClinGenrs754532049
ebirs754532049
HLIrs754532049
Exacrs754532049
Gnomadrs754532049
Varsomers754532049
LitVarrs754532049
Maprs754532049
PheGenIrs754532049
Biobankrs754532049
1000 genomesrs754532049
hgdprs754532049
ensemblrs754532049
geneviewrs754532049
scholarrs754532049
googlers754532049
pharmgkbrs754532049
gwascentralrs754532049
openSNPrs754532049
23andMers754532049
SNPshotrs754532049
SNPdbers754532049
MSV3drs754532049
GWAS Ctlgrs754532049
Max Magnitude0
ClinVar
Risk rs754532049(-;-)
Alt rs754532049(-;-)
Reference Rs754532049(CA;CA)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene XPC
CLNDBN Xeroderma pigmentosum, group C
Reversed 0
HGVS NC_000003.11:g.14199739_14199740delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000286.4,