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

rs139990565

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139990565(A;A)
Make rs139990565(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position123326163
GeneGRIA3
is asnp
is mentioned by
dbSNPrs139990565
dbSNP (classic)rs139990565
ClinGenrs139990565
ebirs139990565
HLIrs139990565
Exacrs139990565
Gnomadrs139990565
Varsomers139990565
LitVarrs139990565
Maprs139990565
PheGenIrs139990565
Biobankrs139990565
1000 genomesrs139990565
hgdprs139990565
ensemblrs139990565
geneviewrs139990565
scholarrs139990565
googlers139990565
pharmgkbrs139990565
gwascentralrs139990565
openSNPrs139990565
23andMers139990565
SNPshotrs139990565
SNPdbers139990565
MSV3drs139990565
GWAS Ctlgrs139990565
Max Magnitude0
ClinVar
Risk rs139990565(A;A) rs139990565(T;T)
Alt rs139990565(A;A) rs139990565(T;T)
Reference Rs139990565(C;C)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene GRIA3
CLNDBN Mental retardation, X-linked, syndromic, wu type
Reversed 0
HGVS NC_000023.10:g.122460014C>T
CLNSRC
CLNACC RCV000178131.1,