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rs397514605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514605(A;G)
Make rs397514605(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position243613681
GeneAKT3
is asnp
is mentioned by
dbSNPrs397514605
ebirs397514605
HLIrs397514605
Exacrs397514605
Varsomers397514605
Maprs397514605
PheGenIrs397514605
hapmaprs397514605
1000 genomesrs397514605
hgdprs397514605
ensemblrs397514605
gopubmedrs397514605
geneviewrs397514605
scholarrs397514605
googlers397514605
pharmgkbrs397514605
gwascentralrs397514605
openSNPrs397514605
23andMers397514605
23andMe allrs397514605
SNP Nexus

SNPshotrs397514605
SNPdbers397514605
MSV3drs397514605
GWAS Ctlgrs397514605
Max Magnitude0
ClinVar
Risk rs397514605(G;G)
Alt rs397514605(G;G)
Reference rs397514605(A;A)
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.243776983T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033036.3,