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rs3849942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.4 1.4x increased risk for ALS
(A;G) 1.2 1.2x increased risk for ALS
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome9
Position27543283
is asnp
is mentioned by
dbSNPrs3849942
ebirs3849942
HLIrs3849942
Exacrs3849942
Varsomers3849942
Maprs3849942
PheGenIrs3849942
hapmaprs3849942
1000 genomesrs3849942
hgdprs3849942
ensemblrs3849942
gopubmedrs3849942
geneviewrs3849942
scholarrs3849942
googlers3849942
pharmgkbrs3849942
gwascentralrs3849942
openSNPrs3849942
23andMers3849942
23andMe allrs3849942
SNP Nexus

SNPshotrs3849942
SNPdbers3849942
MSV3drs3849942
GWAS Ctlgrs3849942
GMAF0.191
Max Magnitude1.4
? (A;A) (A;G) (G;G) 28
rs3849942 is one of 2 SNPs from the ch 9p21.2 region associated in a large GWAS study with ALS risk, the other SNP being rs2814707. In this study, the reported odds ratio for rs3849942(A) was 1.22 (CI: 1.15 - 1.30, p = 4.64 x 10e-10).[PMID 20801717OA-icon.png]

The odds ratio for the minor rs3849942(A) allele was 1.15 (p=1.01x10e-8).[PMID 19734901]

From a study of 405 Finnish patients with ALS, rs3849942 was found within a 42 SNP haplotype associated with highly increased (p = 7 x 10e-33) risk when patients with familial ALS were compared to controls (odds ratio of 21.0, CI: 11.2-39.1). This haplotype overlapped with a region reported (by others) to associate with risk for frontotemporal dementia. In terms of population attributable risk, for the 93 patients with familial ALS, this 9p21 locus accounts for 38% and that of rs13048019 (on ch 21q22) for 25%.[PMID 20801718OA-icon.png]


OMIM105550
Desc
Variant
Relatedalso
[PMID 20423481OA-icon.png] Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study.


GET Evidence
rs3849942
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.789062
summary



GWAS snp
PMID [PMID 22959728OA-icon.png]
Trait Amyotrophic lateral sclerosis
Title Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Risk Allele A
P-val 4E-7
Odds Ratio 1.21 [1.11-1.33]


[PMID 22875086OA-icon.png] C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.


[PMID 23587638OA-icon.png] Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.

GWAS snp
PMID [PMID 24256812OA-icon.png]
Trait Amyotrophic lateral sclerosis (sporadic)
Title A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Risk Allele
P-val 1E-8
Odds Ratio NR NR