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rs1547251

From SNPedia

Orientationplus
Stabilizedplus
Make rs1547251(C;C)
Make rs1547251(C;T)
Make rs1547251(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position82696390
is asnp
is mentioned by
dbSNPrs1547251
ebirs1547251
HLIrs1547251
Exacrs1547251
Varsomers1547251
Maprs1547251
PheGenIrs1547251
hapmaprs1547251
1000 genomesrs1547251
hgdprs1547251
ensemblrs1547251
gopubmedrs1547251
geneviewrs1547251
scholarrs1547251
googlers1547251
pharmgkbrs1547251
gwascentralrs1547251
openSNPrs1547251
23andMers1547251
23andMe allrs1547251
SNP Nexus

SNPshotrs1547251
SNPdbers1547251
MSV3drs1547251
GWAS Ctlgrs1547251
GMAF0.4881
Max Magnitude
? (C;C) (C;T) (T;T) 28

A study in Arab families found that an autosomal dominant condition known as split hand/foot malformation with long bone deficiency 2 (SHFLD2) maps between two SNPs, rs623155 and rs1547251. (Variation at these two SNPs themselves does not appear to cause split hand.) OMIM

OMIM610685
DescSPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2
Variant
Relatedalso
[PMID 17160898OA-icon.png] Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

[PMID 17903300OA-icon.png] Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.