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rs587776935

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776935(A;A)
Make rs587776935(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position243505296
GeneAKT3
is asnp
is mentioned by
dbSNPrs587776935
ebirs587776935
HLIrs587776935
Exacrs587776935
Varsomers587776935
Maprs587776935
PheGenIrs587776935
hapmaprs587776935
1000 genomesrs587776935
hgdprs587776935
ensemblrs587776935
gopubmedrs587776935
geneviewrs587776935
scholarrs587776935
googlers587776935
pharmgkbrs587776935
gwascentralrs587776935
openSNPrs587776935
23andMers587776935
23andMe allrs587776935
SNP Nexus

SNPshotrs587776935
SNPdbers587776935
MSV3drs587776935
GWAS Ctlgrs587776935
Max Magnitude0
ClinVar
Risk rs587776935(A,G;A,G)
Alt rs587776935(A,G;A,G)
Reference rs587776935(C;C)
Significance Pathogenic
Disease Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Variation info
Gene AKT3
CLNDBN Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Reversed 1
HGVS NC_000001.10:g.243668598G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033035.3,