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rs185142838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs185142838(A;A)
Make rs185142838(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position49461473
GeneERCC6
is asnp
is mentioned by
dbSNPrs185142838
ebirs185142838
HLIrs185142838
Exacrs185142838
Varsomers185142838
Maprs185142838
PheGenIrs185142838
hapmaprs185142838
1000 genomesrs185142838
hgdprs185142838
ensemblrs185142838
gopubmedrs185142838
geneviewrs185142838
scholarrs185142838
googlers185142838
pharmgkbrs185142838
gwascentralrs185142838
openSNPrs185142838
23andMers185142838
23andMe allrs185142838
SNP Nexus

SNPshotrs185142838
SNPdbers185142838
MSV3drs185142838
GWAS Ctlgrs185142838
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs185142838(A;A)
Alt rs185142838(A;A)
Reference rs185142838(G;G)
Significance Pathogenic
Disease Cerebro-oculo-facio-skeletal syndrome
Variation info
Gene ERCC6
CLNDBN Cerebro-oculo-facio-skeletal syndrome
Reversed 0
HGVS NC_000010.10:g.50669519G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024284.3,