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

rs397514645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514645(A;C)
Make rs397514645(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position104770805
GeneAKT1
is asnp
is mentioned by
dbSNPrs397514645
ebirs397514645
HLIrs397514645
Exacrs397514645
Varsomers397514645
Maprs397514645
PheGenIrs397514645
hapmaprs397514645
1000 genomesrs397514645
hgdprs397514645
ensemblrs397514645
gopubmedrs397514645
geneviewrs397514645
scholarrs397514645
googlers397514645
pharmgkbrs397514645
gwascentralrs397514645
openSNPrs397514645
23andMers397514645
23andMe allrs397514645
SNP Nexus

SNPshotrs397514645
SNPdbers397514645
MSV3drs397514645
GWAS Ctlgrs397514645
Max Magnitude0
ClinVar
Risk rs397514645(C;C)
Alt rs397514645(C;C)
Reference rs397514645(A;A)
Significance Pathogenic
Disease Cowden syndrome 6
Variation info
Gene AKT1
CLNDBN Cowden syndrome 6
Reversed 1
HGVS NC_000014.8:g.105237142T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033178.22,