Rs1804197

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Orientationplus
Geno Mag Summary
(A;A) 2 Increased risk of familial colorectal cancer and Asperger's syndrome
(A;C) 1 Increased risk of familial colorectal cancer and Asperger's syndrome
(C;C) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome5
Position112844212
GeneAPC
is asnp
is mentioned by
dbSNPrs1804197
PheGenIrs1804197
nextbiors1804197
hapmaprs1804197
1000 genomesrs1804197
hgdprs1804197
ensemblrs1804197
gopubmedrs1804197
geneviewrs1804197
scholarrs1804197
googlers1804197
pharmgkbrs1804197
gwascentralrs1804197
openSNPrs1804197
23andMers1804197
23andMe allrs1804197
SNP Nexus

SNPshotrs1804197
SNPdbers1804197
MSV3drs1804197
GMAF0.0932
Max Magnitude2
rs1804197, a SNP in the adenomatous polyposis of the colon APC gene, is associated with autism [PMID 17221838].

Although many SNPs have been found in this gene in association with (successful) hunts for mutations predisposing individuals to colon cancers, this previously unidentified SNP is located in the 3' untranslated portion of the gene. Also in conjunction with a common four-SNP haplotype (TGAG for rs2229992, rs42427, rs459552, and rs465899), this SNP is reported to be associated with Asperger's sydrome in the Swedish population studied. [PMID 17221838]

OMIM114500
Desc
Variant
Relatedalso


ClinVar
Risk rs1804197(A;A)
Alt rs1804197(A;A)
Reference rs1804197(C;C)
Significance Other
Disease Familial colorectal cancer
Variation info
Gene APC
CLNDBN Familial colorectal cancer
Reversed 0
HGVS NC_000005.9:g.112179909C>A
CLNSRC
CLNACC RCV000074248.1,