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rs121913028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913028(C;G)
Make rs121913028(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45414870
GeneERCC1
is asnp
is mentioned by
dbSNPrs121913028
ebirs121913028
HLIrs121913028
Exacrs121913028
Varsomers121913028
Maprs121913028
PheGenIrs121913028
hapmaprs121913028
1000 genomesrs121913028
hgdprs121913028
ensemblrs121913028
gopubmedrs121913028
geneviewrs121913028
scholarrs121913028
googlers121913028
pharmgkbrs121913028
gwascentralrs121913028
openSNPrs121913028
23andMers121913028
23andMe allrs121913028
SNP Nexus

SNPshotrs121913028
SNPdbers121913028
MSV3drs121913028
GWAS Ctlgrs121913028
Max Magnitude0
OMIM126380
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913028(G,T;G,T)
Alt rs121913028(G,T;G,T)
Reference rs121913028(C;C)
Significance Pathogenic
Disease Cerebrooculofacioskeletal syndrome 4
Variation info
Gene ERCC1
CLNDBN Cerebrooculofacioskeletal syndrome 4
Reversed 1
HGVS NC_000019.9:g.45918128G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018266.31,