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rs121913027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913027(C;T)
Make rs121913027(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position45419151
GeneERCC1
is asnp
is mentioned by
dbSNPrs121913027
ebirs121913027
HLIrs121913027
Exacrs121913027
Varsomers121913027
Maprs121913027
PheGenIrs121913027
hapmaprs121913027
1000 genomesrs121913027
hgdprs121913027
ensemblrs121913027
gopubmedrs121913027
geneviewrs121913027
scholarrs121913027
googlers121913027
pharmgkbrs121913027
gwascentralrs121913027
openSNPrs121913027
23andMers121913027
23andMe allrs121913027
SNP Nexus

SNPshotrs121913027
SNPdbers121913027
MSV3drs121913027
GWAS Ctlgrs121913027
Max Magnitude0
OMIM126380
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913027(T;T)
Alt rs121913027(T;T)
Reference rs121913027(C;C)
Significance Pathogenic
Disease Cerebrooculofacioskeletal syndrome 4
Variation info
Gene ERCC1
CLNDBN Cerebrooculofacioskeletal syndrome 4
Reversed 1
HGVS NC_000019.9:g.45922409G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018265.29,