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

rs606231146

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231146(C;G)
Make rs606231146(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position156791771
GeneLMBR1
is asnp
is mentioned by
dbSNPrs606231146
ClinGenrs606231146
ebirs606231146
HLIrs606231146
Exacrs606231146
Varsomers606231146
Maprs606231146
PheGenIrs606231146
hapmaprs606231146
1000 genomesrs606231146
hgdprs606231146
ensemblrs606231146
gopubmedrs606231146
geneviewrs606231146
scholarrs606231146
googlers606231146
pharmgkbrs606231146
gwascentralrs606231146
openSNPrs606231146
23andMers606231146
23andMe allrs606231146
SNP Nexus

SNPshotrs606231146
SNPdbers606231146
MSV3drs606231146
GWAS Ctlgrs606231146
Max Magnitude0
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs606231146(G;G)
Alt rs606231146(G;G)
Reference Rs606231146(C;C)
Significance Pathogenic
Disease Polydactyly
Variation info
Gene LMBR1
CLNDBN Polydactyly, preaxial II
Reversed 1
HGVS NC_000007.13:g.156584465G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005175.3,