rs193922240

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	5.5	Marfan syndrome mutation
(G;G)	0	common in clinvar

Make rs193922240(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48415689

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922240
dbSNP (classic)	rs193922240
ClinGen	rs193922240
ebi	rs193922240
HLI	rs193922240
Exac	rs193922240
Gnomad	rs193922240
Varsome	rs193922240
LitVar	rs193922240
Map	rs193922240
PheGenI	rs193922240
Biobank	rs193922240
1000 genomes	rs193922240
hgdp	rs193922240
ensembl	rs193922240
geneview	rs193922240
scholar	rs193922240
google	rs193922240
pharmgkb	rs193922240
gwascentral	rs193922240
openSNP	rs193922240
23andMe	rs193922240
SNPshot	rs193922240
SNPdbe	rs193922240
MSV3d	rs193922240
GWAS Ctlg	rs193922240

Max Magnitude

5.5

ClinVar
Risk	rs193922240(C;C)
Alt	rs193922240(C;C)
Reference	Rs193922240(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48707886C>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029785.1,