rs10239794

plus

Geno	Mag	Summary
(C;C)	1	Probably benign; one 2008 study reports 1.3x higher risk for ALS
(C;T)	1	Probably benign; only one 2008 study reports 1.3x higher risk for ALS
(T;T)	0	common/normal

Reference

GRCh38 38.1/141

Chromosome

7

Position

154508809

Gene

DPP6

is a	snp
is	mentioned by
dbSNP	rs10239794
dbSNP (classic)	rs10239794
ClinGen	rs10239794
ebi	rs10239794
HLI	rs10239794
Exac	rs10239794
Gnomad	rs10239794
Varsome	rs10239794
LitVar	rs10239794
Map	rs10239794
PheGenI	rs10239794
Biobank	rs10239794
1000 genomes	rs10239794
hgdp	rs10239794
ensembl	rs10239794
geneview	rs10239794
scholar	rs10239794
google	rs10239794
pharmgkb	rs10239794
gwascentral	rs10239794
openSNP	rs10239794
23andMe	rs10239794
SNPshot	rs10239794
SNPdbe	rs10239794
MSV3d	rs10239794
GWAS Ctlg	rs10239794

GMAF

0.4642

Max Magnitude

1

?

(C;C) (C;T) (T;T)

28

rs10239794, a SNP in the region of the DPP6 gene on chromosome 7, has been associated with the sporadic form of ALS (Lou Gehrig's disease) in a 2008 study of 1000+ European patients. The odds ratio for the risk allele rs10239794(C) is 1.30 (CI: 1.18 - 1.43). [PMID 18084291]

A "CC" haplotype for this SNP and that of it's neighbor rs10260404 is also highly (statistically; p=10e-9) associated with ALS. [PMID 18084291]

However, a subsequent publication was unable to replicate the association with rs10260404, and to our knowledge, in the years since 2008 there has not been a report replicating the association of rs10239794 with ALS.