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rs121917904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917904(C;T)
Make rs121917904(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49482809
GeneERCC6
is asnp
is mentioned by
dbSNPrs121917904
ebirs121917904
HLIrs121917904
Exacrs121917904
Varsomers121917904
Maprs121917904
PheGenIrs121917904
hapmaprs121917904
1000 genomesrs121917904
hgdprs121917904
ensemblrs121917904
gopubmedrs121917904
geneviewrs121917904
scholarrs121917904
googlers121917904
pharmgkbrs121917904
gwascentralrs121917904
openSNPrs121917904
23andMers121917904
23andMe allrs121917904
SNP Nexus

SNPshotrs121917904
SNPdbers121917904
MSV3drs121917904
GWAS Ctlgrs121917904
Max Magnitude0
OMIM609413
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121917904(T;T)
Alt rs121917904(T;T)
Reference rs121917904(C;C)
Significance Pathogenic
Disease Cerebro-oculo-facio-skeletal syndrome
Variation info
Gene ERCC6
CLNDBN Cerebro-oculo-facio-skeletal syndrome
Reversed 1
HGVS NC_000010.10:g.50690855G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001781.3,