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rs606231148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231148(A;T)
Make rs606231148(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position156791571
GeneLMBR1
is asnp
is mentioned by
dbSNPrs606231148
dbSNP (old)rs606231148
ClinGenrs606231148
ebirs606231148
HLIrs606231148
Exacrs606231148
Gnomadrs606231148
Varsomers606231148
Maprs606231148
PheGenIrs606231148
Biobankrs606231148
1000 genomesrs606231148
hgdprs606231148
ensemblrs606231148
gopubmedrs606231148
geneviewrs606231148
scholarrs606231148
googlers606231148
pharmgkbrs606231148
gwascentralrs606231148
openSNPrs606231148
23andMers606231148
23andMe allrs606231148
SNP Nexus

SNPshotrs606231148
SNPdbers606231148
MSV3drs606231148
GWAS Ctlgrs606231148
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 rs606231148(T;T)
Alt rs606231148(T;T)
Reference Rs606231148(A;A)
Significance Pathogenic
Disease Polydactyly
Variation info
Gene LMBR1
CLNDBN Polydactyly, preaxial II
Reversed 1
HGVS NC_000007.13:g.156584265T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005177.3,