rs193922190

Orientation

minus

Stabilized

minus

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

Make rs193922190(A;A)

Make rs193922190(A;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48495500

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922190
dbSNP (classic)	rs193922190
ClinGen	rs193922190
ebi	rs193922190
HLI	rs193922190
Exac	rs193922190
Gnomad	rs193922190
Varsome	rs193922190
LitVar	rs193922190
Map	rs193922190
PheGenI	rs193922190
Biobank	rs193922190
1000 genomes	rs193922190
hgdp	rs193922190
ensembl	rs193922190
geneview	rs193922190
scholar	rs193922190
google	rs193922190
pharmgkb	rs193922190
gwascentral	rs193922190
openSNP	rs193922190
23andMe	rs193922190
SNPshot	rs193922190
SNPdbe	rs193922190
MSV3d	rs193922190
GWAS Ctlg	rs193922190

Max Magnitude

0

ClinVar
Risk	rs193922190(A;A)
Alt	rs193922190(A;A)
Reference	Rs193922190(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48787697A>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029712.1,