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rs623155

From SNPedia

Orientationminus
Stabilizedminus
Make rs623155(A;A)
Make rs623155(A;G)
Make rs623155(G;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position78557764
GeneLOC105377865
is asnp
is mentioned by
dbSNPrs623155
dbSNP (classic)rs623155
ClinGenrs623155
ebirs623155
HLIrs623155
Exacrs623155
Gnomadrs623155
Varsomers623155
LitVarrs623155
Maprs623155
PheGenIrs623155
Biobankrs623155
1000 genomesrs623155
hgdprs623155
ensemblrs623155
geneviewrs623155
scholarrs623155
googlers623155
pharmgkbrs623155
gwascentralrs623155
openSNPrs623155
23andMers623155
SNPshotrs623155
SNPdbers623155
MSV3drs623155
GWAS Ctlgrs623155
GMAF0.4665
Max Magnitude0
? (A;A) (A;G) (G;G) 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.