rs1804197

plus

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

Reference

GRCh38 38.1/141

Chromosome

5

Position

112844212

Gene

APC

is a	snp
is	mentioned by
dbSNP	rs1804197
dbSNP (classic)	rs1804197
ClinGen	rs1804197
ebi	rs1804197
HLI	rs1804197
Exac	rs1804197
Gnomad	rs1804197
Varsome	rs1804197
LitVar	rs1804197
Map	rs1804197
PheGenI	rs1804197
Biobank	rs1804197
1000 genomes	rs1804197
hgdp	rs1804197
ensembl	rs1804197
geneview	rs1804197
scholar	rs1804197
google	rs1804197
pharmgkb	rs1804197
gwascentral	rs1804197
openSNP	rs1804197
23andMe	rs1804197
SNPshot	rs1804197
SNPdbe	rs1804197
MSV3d	rs1804197
GWAS Ctlg	rs1804197

GMAF

0.0932

Max Magnitude

2

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]

OMIM	114500
Desc
Variant
Related	also

ClinVar
Risk	Rs1804197(A;A)
Alt	Rs1804197(A;A)
Reference	Rs1804197(C;C)
Significance	Other
Disease	Familial colorectal cancer not specified APC-Associated Polyposis Disorders
Variation	info
Gene	APC
CLNDBN	Familial colorectal cancer not specified APC-Associated Polyposis Disorders
Reversed	0
HGVS	NC_000005.9:g.112179909C>A
CLNSRC	ClinVar
CLNACC	RCV000074248.1, RCV000249942.1, RCV000383415.1,

[PMID 32159210 ] APC gene 3'UTR SNPs and interactions with environmental factors are correlated with risk of colorectal cancer in Chinese Han population.