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rs121917903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917903(C;T)
Make rs121917903(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49532736
GeneERCC6, ERCC6-PGBD3
is asnp
is mentioned by
dbSNPrs121917903
ebirs121917903
HLIrs121917903
Exacrs121917903
Varsomers121917903
Maprs121917903
PheGenIrs121917903
hapmaprs121917903
1000 genomesrs121917903
hgdprs121917903
ensemblrs121917903
gopubmedrs121917903
geneviewrs121917903
scholarrs121917903
googlers121917903
pharmgkbrs121917903
gwascentralrs121917903
openSNPrs121917903
23andMers121917903
23andMe allrs121917903
SNP Nexus

SNPshotrs121917903
SNPdbers121917903
MSV3drs121917903
GWAS Ctlgrs121917903
Max Magnitude0
OMIM609413
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121917903(T;T)
Alt rs121917903(T;T)
Reference rs121917903(C;C)
Significance Pathogenic
Disease UV-sensitive syndrome
Variation info
Gene ERCC6-PGBD3 ERCC6
CLNDBN UV-sensitive syndrome
Reversed 1
HGVS NC_000010.10:g.50740782G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001777.4,