rs397515793

Orientation

minus

Stabilized

minus

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

Make rs397515793(A;A)

Make rs397515793(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48487075

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515793
dbSNP (classic)	rs397515793
ClinGen	rs397515793
ebi	rs397515793
HLI	rs397515793
Exac	rs397515793
Gnomad	rs397515793
Varsome	rs397515793
LitVar	rs397515793
Map	rs397515793
PheGenI	rs397515793
Biobank	rs397515793
1000 genomes	rs397515793
hgdp	rs397515793
ensembl	rs397515793
geneview	rs397515793
scholar	rs397515793
google	rs397515793
pharmgkb	rs397515793
gwascentral	rs397515793
openSNP	rs397515793
23andMe	rs397515793
SNPshot	rs397515793
SNPdbe	rs397515793
MSV3d	rs397515793
GWAS Ctlg	rs397515793

Max Magnitude

0

ClinVar
Risk	rs397515793(A;A) rs397515793(C;C)
Alt	rs397515793(A;A) rs397515793(C;C)
Reference	Rs397515793(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome not specified
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not specified
Reversed	1
HGVS	NC_000015.9:g.48779272C>G; NC_000015.9:g.48779272C>T
CLNSRC
CLNACC	RCV000156031.1, RCV000035177.2,