rs193922189

Orientation

minus

Stabilized

minus

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

Make rs193922189(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48495529

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922189
dbSNP (classic)	rs193922189
ClinGen	rs193922189
ebi	rs193922189
HLI	rs193922189
Exac	rs193922189
Gnomad	rs193922189
Varsome	rs193922189
LitVar	rs193922189
Map	rs193922189
PheGenI	rs193922189
Biobank	rs193922189
1000 genomes	rs193922189
hgdp	rs193922189
ensembl	rs193922189
geneview	rs193922189
scholar	rs193922189
google	rs193922189
pharmgkb	rs193922189
gwascentral	rs193922189
openSNP	rs193922189
23andMe	rs193922189
SNPshot	rs193922189
SNPdbe	rs193922189
MSV3d	rs193922189
GWAS Ctlg	rs193922189

Max Magnitude

5.5

ClinVar
Risk	rs193922189(C;C)
Alt	rs193922189(C;C)
Reference	Rs193922189(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48787726A>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029711.1,