Rs926103

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Orientationminus
Geno Mag Summary
(A;A) 1 Possible increased risk of multiple sclerosis if SH2D2A promoter GA repeat=16
(A;G) 0 No increased risk.
(G;G) 0 No increased risk.
ReferenceGRCh38 38.1/141
Chromosome1
Position156815190
GeneNTRK1, SH2D2A
is asnp
is mentioned by
dbSNPrs926103
PheGenIrs926103
nextbiors926103
hapmaprs926103
1000 genomesrs926103
hgdprs926103
ensemblrs926103
gopubmedrs926103
geneviewrs926103
scholarrs926103
googlers926103
pharmgkbrs926103
gwascentralrs926103
openSNPrs926103
23andMers926103
23andMe allrs926103
SNP Nexus

SNPshotrs926103
SNPdbers926103
MSV3drs926103
GMAF0.382
Max Magnitude1
? (A;A) (A;G) (G;G) 28
Rs926103 is located within the SH2D2A gene on Chromosome 1. SH2D2A encodes an adapter protein thought to function in T-cell signal transduction. [PMID 11528519]

A study in the Journal for Neuroimmunology reported that 16 repeats repeat of GA after the (A;A) allele at this SNP is associated with multiple sclerosis in Norwegian, Danish and Swedish sample sets. [PMID 18554728]

The study concludes that the SH2D2A gene may contribute to susceptibility to MS. [PMID 18554728]

This study has yet to be verified or reproduced in any subsequent research.

[PMID 11528519] The T cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis

[PMID 18554728] rs926103 and a GA repeat polymorphism forming a risk haplotype for Multiple sclerosis The fact that this is a mixture of a snp and a repeat makes this an interesting test case for Promethease


GET Evidence
SH2D2A-N34S
aa_change Asn34Ser
aa_change_short N34S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary