{{Rsnum
|rsid=3849942
|Chromosome=9
|position=27543283
|Orientation=minus
|GMAF=0.191
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 8.8 | 29.2 | 61.9
| HCB | 0.7 | 13.1 | 86.1
| JPT | 0.0 | 15.0 | 85.0
| YRI | 3.4 | 38.1 | 58.5
| ASW | 5.3 | 28.1 | 66.7
| CHB | 0.7 | 13.1 | 86.1
| CHD | 0.9 | 16.5 | 82.6
| GIH | 1.0 | 24.8 | 74.3
| LWK | 7.3 | 40.9 | 51.8
| MEX | 1.7 | 5.2 | 93.1
| MKK | 9.6 | 40.4 | 50.0
| TSI | 9.8 | 41.2 | 49.0
| HapMapRevision=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|20801717|OA=1
}}

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|20801718|OA=1
}} 

{{PharmGKB
|RSID=rs3849942
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18615156
|Annotation=This variant is significantly associated with the efficacy of anti-TNF treatment in rheumatoid arthritis (Adjusted P-value: 0.000005; OR: 5.0 (1.7, 15.8)). The study is a genome-wide association study using the Illumina HapMap300 SNP chip on 89 RA patients prospectively followed after beginning of anti-TNF therapy.
|Drugs=adalimumab; etanercept; infliximab
|Drug Classes=
|Diseases=Arthritis, Rheumatoid
|Curation Level=Curated
|PharmGKB Accession ID=PA162928830
}}

{{omim
|id=105550
|rsnum=3849942
}}

{{PMID Auto
|PMID=20423481
|Title=Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3849942
|overall_frequency_n=101
|overall_frequency_d=128
|overall_frequency=0.789062
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=89
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=22959728
  |Trait=Amyotrophic lateral sclerosis
  |Title=Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
  |RiskAllele=A
  |Pval=4E-7
  |OR=1.21
  |ORtxt=[1.11-1.33]
  |OA=1
}}

{{PMID Auto
|PMID=22875086
|Title=C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
|OA=1
}}

{{PMID Auto
|PMID=23587638
|Title=Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.
|OA=1
}}

{{PMID Auto GWAS
  |PMID=24256812
  |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.
  |RiskAllele=
  |Pval=1E-8
  |OR=NR
  |ORtxt=NR
  }}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}