rs193922215

Orientation

minus

Stabilized

minus

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

Make rs193922215(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48537791

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922215
dbSNP (classic)	rs193922215
ClinGen	rs193922215
ebi	rs193922215
HLI	rs193922215
Exac	rs193922215
Gnomad	rs193922215
Varsome	rs193922215
LitVar	rs193922215
Map	rs193922215
PheGenI	rs193922215
Biobank	rs193922215
1000 genomes	rs193922215
hgdp	rs193922215
ensembl	rs193922215
geneview	rs193922215
scholar	rs193922215
google	rs193922215
pharmgkb	rs193922215
gwascentral	rs193922215
openSNP	rs193922215
23andMe	rs193922215
SNPshot	rs193922215
SNPdbe	rs193922215
MSV3d	rs193922215
GWAS Ctlg	rs193922215

Max Magnitude

5.5

ClinVar
Risk	rs193922215(C;C)
Alt	rs193922215(C;C)
Reference	Rs193922215(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48829988A>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029753.1,