Rs1804197

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs1804197
PheGenI	rs1804197
nextbio	rs1804197
hapmap	rs1804197
1000 genomes	rs1804197
hgdp	rs1804197
ensembl	rs1804197
gopubmed	rs1804197
geneview	rs1804197
scholar	rs1804197
google	rs1804197
pharmgkb	rs1804197
gwascentral	rs1804197
openSNP	rs1804197
23andMe	rs1804197
23andMe all	rs1804197
SNP Nexus
SNPshot	rs1804197
SNPdbe	rs1804197
MSV3d	rs1804197

Gene

APC

Chromosome

5

Orientation

plus

Position

112179909

Reference

GRCh37 37.1/131

Max Magnitude

0

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs1804197(A;A)

Make rs1804197(A;C)

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)
Normal	rs1804197(C;C)
Significance	255
Disease
ClinVar	info
Gene	APC
CLNDBN	OMIM
Reversed	0
CLNHGVS	NC_000005.9:g.112179909C>A
CLNSRC