rs193922182

Orientation

minus

Stabilized

minus

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

Make rs193922182(-;-)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48510049

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922182
dbSNP (classic)	rs193922182
ClinGen	rs193922182
ebi	rs193922182
HLI	rs193922182
Exac	rs193922182
Gnomad	rs193922182
Varsome	rs193922182
LitVar	rs193922182
Map	rs193922182
PheGenI	rs193922182
Biobank	rs193922182
1000 genomes	rs193922182
hgdp	rs193922182
ensembl	rs193922182
geneview	rs193922182
scholar	rs193922182
google	rs193922182
pharmgkb	rs193922182
gwascentral	rs193922182
openSNP	rs193922182
23andMe	rs193922182
SNPshot	rs193922182
SNPdbe	rs193922182
MSV3d	rs193922182
GWAS Ctlg	rs193922182

Max Magnitude

5.5

ClinVar
Risk	rs193922182(-;-)
Alt	rs193922182(-;-)
Reference	Rs193922182(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48802246delC
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029698.1,