rs397514644

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs397514644(C;T)

Make rs397514644(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

104780190

Gene

AKT1

is a	snp
is	mentioned by
dbSNP	rs397514644
dbSNP (classic)	rs397514644
ClinGen	rs397514644
ebi	rs397514644
HLI	rs397514644
Exac	rs397514644
Gnomad	rs397514644
Varsome	rs397514644
LitVar	rs397514644
Map	rs397514644
PheGenI	rs397514644
Biobank	rs397514644
1000 genomes	rs397514644
hgdp	rs397514644
ensembl	rs397514644
geneview	rs397514644
scholar	rs397514644
google	rs397514644
pharmgkb	rs397514644
gwascentral	rs397514644
openSNP	rs397514644
23andMe	rs397514644
SNPshot	rs397514644
SNPdbe	rs397514644
MSV3d	rs397514644
GWAS Ctlg	rs397514644

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000033177.26,