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rs397514644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514644(C;T)
Make rs397514644(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position104780190
GeneAKT1
is asnp
is mentioned by
dbSNPrs397514644
ebirs397514644
HLIrs397514644
Exacrs397514644
Varsomers397514644
Maprs397514644
PheGenIrs397514644
hapmaprs397514644
1000 genomesrs397514644
hgdprs397514644
ensemblrs397514644
gopubmedrs397514644
geneviewrs397514644
scholarrs397514644
googlers397514644
pharmgkbrs397514644
gwascentralrs397514644
openSNPrs397514644
23andMers397514644
23andMe allrs397514644
SNP Nexus

SNPshotrs397514644
SNPdbers397514644
MSV3drs397514644
GWAS Ctlgrs397514644
Max Magnitude0
ClinVar
Risk rs397514644(T;T)
Alt rs397514644(T;T)
Reference rs397514644(C;C)
Significance Pathogenic
Disease Cowden syndrome 6
Variation info
Gene AKT1
CLNDBN Cowden syndrome 6
Reversed 1
HGVS NC_000014.8:g.105246527G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033177.26,