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rs397514606

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514606(A;A)
Make rs397514606(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position243695714
GeneAKT3
is asnp
is mentioned by
dbSNPrs397514606
ebirs397514606
HLIrs397514606
Exacrs397514606
Varsomers397514606
Maprs397514606
PheGenIrs397514606
hapmaprs397514606
1000 genomesrs397514606
hgdprs397514606
ensemblrs397514606
gopubmedrs397514606
geneviewrs397514606
scholarrs397514606
googlers397514606
pharmgkbrs397514606
gwascentralrs397514606
openSNPrs397514606
23andMers397514606
23andMe allrs397514606
SNP Nexus

SNPshotrs397514606
SNPdbers397514606
MSV3drs397514606
GWAS Ctlgrs397514606
Max Magnitude0
ClinVar
Risk rs397514606(A;A)
Alt rs397514606(A;A)
Reference rs397514606(G;G)
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.243859016C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033037.4,