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rs121913024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913024(C;T)
Make rs121913024(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position45352802
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913024
ebirs121913024
HLIrs121913024
Exacrs121913024
Varsomers121913024
Maprs121913024
PheGenIrs121913024
hapmaprs121913024
1000 genomesrs121913024
hgdprs121913024
ensemblrs121913024
gopubmedrs121913024
geneviewrs121913024
scholarrs121913024
googlers121913024
pharmgkbrs121913024
gwascentralrs121913024
openSNPrs121913024
23andMers121913024
23andMe allrs121913024
SNP Nexus

SNPshotrs121913024
SNPdbers121913024
MSV3drs121913024
GWAS Ctlgrs121913024
Max Magnitude0
OMIM126340
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121913024(T;T)
Alt rs121913024(T;T)
Reference rs121913024(C;C)
Significance Pathogenic
Disease Cerebro-oculo-facio-skeletal syndrome Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2
Variation info
Gene ERCC2
CLNDBN Cerebro-oculo-facio-skeletal syndrome Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2
Reversed 1
HGVS NC_000019.9:g.45856060G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018278.28, RCV000018279.23, RCV000171547.3,