Have questions? Visit https://www.reddit.com/r/SNPedia

rs120074176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 5 Possible increased risk for ADHD and other psychiatric disorders
Make rs120074176(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position71979053
GeneTPH2
is asnp
is mentioned by
dbSNPrs120074176
ebirs120074176
HLIrs120074176
Exacrs120074176
Varsomers120074176
Maprs120074176
PheGenIrs120074176
hapmaprs120074176
1000 genomesrs120074176
hgdprs120074176
ensemblrs120074176
gopubmedrs120074176
geneviewrs120074176
scholarrs120074176
googlers120074176
pharmgkbrs120074176
gwascentralrs120074176
openSNPrs120074176
23andMers120074176
23andMe allrs120074176
SNP Nexus

SNPshotrs120074176
SNPdbers120074176
MSV3drs120074176
GWAS Ctlgrs120074176
Max Magnitude5

rs120074176, also known as c.907C>T, p.Arg303Trp and R303W, represents a very rare loss-of-function mutation in the TPH2 gene on chromosome 12.

A single rs120074176(T) allele was found in a Norwegian female with ADHD as well as major depression. Carriers of this allele appear to have reduced serotonin synthesis, which may result in increased susceptibility to ADHD and possibly other psychiatric disorders.[PMID 18347598]

OMIM607478
Desc
Variant0002
Relatedalso
ClinVar
Risk rs120074176(T;T)
Alt rs120074176(T;T)
Reference rs120074176(C;C)
Significance Other
Disease Attention deficit-hyperactivity disorder 7
Variation info
Gene TPH2
CLNDBN Attention deficit-hyperactivity disorder 7
Reversed 0
HGVS NC_000012.11:g.72372833C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003313.2,