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rs1124110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs1124110(A;G)
Make rs1124110(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position230175226
GeneGALNT2
is asnp
is mentioned by
dbSNPrs1124110
ebirs1124110
HLIrs1124110
Exacrs1124110
Varsomers1124110
Maprs1124110
PheGenIrs1124110
hapmaprs1124110
1000 genomesrs1124110
hgdprs1124110
ensemblrs1124110
gopubmedrs1124110
geneviewrs1124110
scholarrs1124110
googlers1124110
pharmgkbrs1124110
gwascentralrs1124110
openSNPrs1124110
23andMers1124110
23andMe allrs1124110
SNP Nexus

SNPshotrs1124110
SNPdbers1124110
MSV3drs1124110
GWAS Ctlgrs1124110
GMAF0.1722
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM119100
DescSPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1
Variant
Relatedalso
Split hand syndrome (or split hand and foot syndrome) is a developmental abnormality resulting in malformed or absent fingers and/or toes. There may be additional limb defects, such as absent tibias. Several different chromosomal regions have been implicated in this syndrome, among them
  • rs1124110 in the GALNT2 gene; the risk allele is G (reported as C by 23andMe)

This variation is considered to be an autosomal dominant with low penetrance. In other words, the split hand defect will often skip generations, and most people who carry the risk variant of rs1124110 have normal hands and feet. There are known carriers of two risk alleles of rs1124110 who are normal, although other family members are affected. This pattern of inheritance indicates that more than one gene may be involved.


[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.