rs926103

minus

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.

Reference

GRCh38 38.1/141

Chromosome

1

Position

156815190

Gene	NTRK1, SH2D2A

is a	snp
is	mentioned by
dbSNP	rs926103
dbSNP (classic)	rs926103
ClinGen	rs926103
ebi	rs926103
HLI	rs926103
Exac	rs926103
Gnomad	rs926103
Varsome	rs926103
LitVar	rs926103
Map	rs926103
PheGenI	rs926103
Biobank	rs926103
1000 genomes	rs926103
hgdp	rs926103
ensembl	rs926103
geneview	rs926103
scholar	rs926103
google	rs926103
pharmgkb	rs926103
gwascentral	rs926103
openSNP	rs926103
23andMe	rs926103
SNPshot	rs926103
SNPdbe	rs926103
MSV3d	rs926103
GWAS Ctlg	rs926103

GMAF

0.382

Max Magnitude

1

?

(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