Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913023(A;A)
Make rs121913023(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45352511
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913023
ebirs121913023
HLIrs121913023
Exacrs121913023
Varsomers121913023
Maprs121913023
PheGenIrs121913023
hapmaprs121913023
1000 genomesrs121913023
hgdprs121913023
ensemblrs121913023
gopubmedrs121913023
geneviewrs121913023
scholarrs121913023
googlers121913023
pharmgkbrs121913023
gwascentralrs121913023
openSNPrs121913023
23andMers121913023
23andMe allrs121913023
SNP Nexus

SNPshotrs121913023
SNPdbers121913023
MSV3drs121913023
GWAS Ctlgrs121913023
Max Magnitude0
OMIM126340
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121913023(A;A)
Alt rs121913023(A;A)
Reference rs121913023(G;G)
Significance Pathogenic
Disease Cerebrooculofacioskeletal syndrome 2
Variation info
Gene ERCC2
CLNDBN Cerebrooculofacioskeletal syndrome 2
Reversed 1
HGVS NC_000019.9:g.45855769C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018277.27,