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rs121917905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917905(C;C)
Make rs121917905(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49471085
GeneERCC6
is asnp
is mentioned by
dbSNPrs121917905
ebirs121917905
HLIrs121917905
Exacrs121917905
Varsomers121917905
Maprs121917905
PheGenIrs121917905
hapmaprs121917905
1000 genomesrs121917905
hgdprs121917905
ensemblrs121917905
gopubmedrs121917905
geneviewrs121917905
scholarrs121917905
googlers121917905
pharmgkbrs121917905
gwascentralrs121917905
openSNPrs121917905
23andMers121917905
23andMe allrs121917905
SNP Nexus

SNPshotrs121917905
SNPdbers121917905
MSV3drs121917905
GWAS Ctlgrs121917905
Max Magnitude0
OMIM609413
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121917905(C;C)
Alt rs121917905(C;C)
Reference rs121917905(T;T)
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.50679131A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001782.3,