rs193922203

Orientation

minus

Stabilized

minus

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

Make rs193922203(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48474300

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922203
dbSNP (classic)	rs193922203
ClinGen	rs193922203
ebi	rs193922203
HLI	rs193922203
Exac	rs193922203
Gnomad	rs193922203
Varsome	rs193922203
LitVar	rs193922203
Map	rs193922203
PheGenI	rs193922203
Biobank	rs193922203
1000 genomes	rs193922203
hgdp	rs193922203
ensembl	rs193922203
geneview	rs193922203
scholar	rs193922203
google	rs193922203
pharmgkb	rs193922203
gwascentral	rs193922203
openSNP	rs193922203
23andMe	rs193922203
SNPshot	rs193922203
SNPdbe	rs193922203
MSV3d	rs193922203
GWAS Ctlg	rs193922203

Max Magnitude

5.5

ClinVar
Risk	rs193922203(G;G)
Alt	rs193922203(G;G)
Reference	Rs193922203(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48766497A>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029735.1,