rs397514645

Orientation

minus

Stabilized

minus

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

Make rs397514645(A;C)

Make rs397514645(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

104770805

Gene

AKT1

is a	snp
is	mentioned by
dbSNP	rs397514645
dbSNP (classic)	rs397514645
ClinGen	rs397514645
ebi	rs397514645
HLI	rs397514645
Exac	rs397514645
Gnomad	rs397514645
Varsome	rs397514645
LitVar	rs397514645
Map	rs397514645
PheGenI	rs397514645
Biobank	rs397514645
1000 genomes	rs397514645
hgdp	rs397514645
ensembl	rs397514645
geneview	rs397514645
scholar	rs397514645
google	rs397514645
pharmgkb	rs397514645
gwascentral	rs397514645
openSNP	rs397514645
23andMe	rs397514645
SNPshot	rs397514645
SNPdbe	rs397514645
MSV3d	rs397514645
GWAS Ctlg	rs397514645

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000033178.22,