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rs606231230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231230(A;A)
Make rs606231230(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position156791579
GeneLMBR1
is asnp
is mentioned by
dbSNPrs606231230
dbSNP (classic)rs606231230
ClinGenrs606231230
ebirs606231230
HLIrs606231230
Exacrs606231230
Gnomadrs606231230
Varsomers606231230
LitVarrs606231230
Maprs606231230
PheGenIrs606231230
Biobankrs606231230
1000 genomesrs606231230
hgdprs606231230
ensemblrs606231230
geneviewrs606231230
scholarrs606231230
googlers606231230
pharmgkbrs606231230
gwascentralrs606231230
openSNPrs606231230
23andMers606231230
SNPshotrs606231230
SNPdbers606231230
MSV3drs606231230
GWAS Ctlgrs606231230
Max Magnitude0

[PMID 27569544OA-icon.png] 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 rs606231230(A;A)
Alt rs606231230(A;A)
Reference Rs606231230(G;G)
Significance Pathogenic
Disease Polydactyly
Variation info
Gene LMBR1
CLNDBN Polydactyly, preaxial II
Reversed 1
HGVS NC_000007.13:g.156584273C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023453.5,