rs193922197

Orientation

minus

Stabilized

minus

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

Make rs193922197(-;-)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48488435

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922197
dbSNP (classic)	rs193922197
ClinGen	rs193922197
ebi	rs193922197
HLI	rs193922197
Exac	rs193922197
Gnomad	rs193922197
Varsome	rs193922197
LitVar	rs193922197
Map	rs193922197
PheGenI	rs193922197
Biobank	rs193922197
1000 genomes	rs193922197
hgdp	rs193922197
ensembl	rs193922197
geneview	rs193922197
scholar	rs193922197
google	rs193922197
pharmgkb	rs193922197
gwascentral	rs193922197
openSNP	rs193922197
23andMe	rs193922197
SNPshot	rs193922197
SNPdbe	rs193922197
MSV3d	rs193922197
GWAS Ctlg	rs193922197

Max Magnitude

5.5

ClinVar
Risk	rs193922197(-;-)
Alt	rs193922197(-;-)
Reference	Rs193922197(CC;CC)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48780632_48780633delGG
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029723.1,