rs397515330

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.5	Familial thoracic aortic aneurysms and dissections (FTAAD)
(G;G)	0	common in clinvar

Make rs397515330(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

51467819

Gene

PRKG1

is a	snp
is	mentioned by
dbSNP	rs397515330
dbSNP (classic)	rs397515330
ClinGen	rs397515330
ebi	rs397515330
HLI	rs397515330
Exac	rs397515330
Gnomad	rs397515330
Varsome	rs397515330
LitVar	rs397515330
Map	rs397515330
PheGenI	rs397515330
Biobank	rs397515330
1000 genomes	rs397515330
hgdp	rs397515330
ensembl	rs397515330
geneview	rs397515330
scholar	rs397515330
google	rs397515330
pharmgkb	rs397515330
gwascentral	rs397515330
openSNP	rs397515330
23andMe	rs397515330
SNPshot	rs397515330
SNPdbe	rs397515330
MSV3d	rs397515330
GWAS Ctlg	rs397515330

Max Magnitude

6.5

aka c.575G>A (p.Arg192Gln)

ClinVar
Risk	rs397515330(A;A)
Alt	rs397515330(A;A)
Reference	Rs397515330(G;G)
Significance	Pathogenic
Disease	Aortic aneurysm Thoracic aortic aneurysm and aortic dissection not provided
Variation	info
Gene	PRKG1
CLNDBN	Aortic aneurysm, familial thoracic 8 Thoracic aortic aneurysm and aortic dissection not provided
Reversed	0
HGVS	NC_000010.10:g.53227579G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000055667.25, RCV000248773.1, RCV000494178.1,