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rs362691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs362691(C;C)
Make rs362691(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position103610714
GeneRELN
is asnp
is mentioned by
dbSNPrs362691
ebirs362691
HLIrs362691
Exacrs362691
Varsomers362691
Maprs362691
PheGenIrs362691
hapmaprs362691
1000 genomesrs362691
hgdprs362691
ensemblrs362691
gopubmedrs362691
geneviewrs362691
scholarrs362691
googlers362691
pharmgkbrs362691
gwascentralrs362691
openSNPrs362691
23andMers362691
23andMe allrs362691
SNP Nexus

SNPshotrs362691
SNPdbers362691
MSV3drs362691
GWAS Ctlgrs362691
GMAF0.1033
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene RELN
allele C
frequency 0.133
sift TOLERATED
HuRef 1103652662160
Disease Association Defects in RELN may predispose to autistic disorder. A polymorphic GGC triplet repeat located in the 5' UTR region of RELN gene, which harbors in the normal population 8 to 10 repeats, is significantly increased in autistic patients to carry 4 to 23 additional repeats.



[PMID 20554015] No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population [PMID 18597938] Genetic analysis of reelin gene (RELN) SNPs: no association with autism spectrum disorder in the Indian population.


[PMID 20697953] An association analysis of reelin gene (RELN) polymorphisms with childhood epilepsy in eastern Indian population from West Bengal.

GET Evidence
RELN-L997V
aa_change Leu997Val
aa_change_short L997V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0959286
summary


[PMID 23216241OA-icon.png] Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population.

ClinVar
Risk rs362691(C;C)
Alt rs362691(C;C)
Reference rs362691(G;G)
Significance Other
Disease not specified
Variation info
Gene RELN
CLNDBN not specified
Reversed 0
HGVS NC_000007.13:g.103251161G>C
CLNSRC ClinVar GeneDx University of Chicago
CLNACC RCV000118147.3,