rs193922235

Orientation

minus

Stabilized

minus

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

Make rs193922235(-;-)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48421579

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922235
dbSNP (classic)	rs193922235
ClinGen	rs193922235
ebi	rs193922235
HLI	rs193922235
Exac	rs193922235
Gnomad	rs193922235
Varsome	rs193922235
LitVar	rs193922235
Map	rs193922235
PheGenI	rs193922235
Biobank	rs193922235
1000 genomes	rs193922235
hgdp	rs193922235
ensembl	rs193922235
geneview	rs193922235
scholar	rs193922235
google	rs193922235
pharmgkb	rs193922235
gwascentral	rs193922235
openSNP	rs193922235
23andMe	rs193922235
SNPshot	rs193922235
SNPdbe	rs193922235
MSV3d	rs193922235
GWAS Ctlg	rs193922235

Max Magnitude

5.5

ClinVar
Risk	rs193922235(-;-)
Alt	rs193922235(-;-)
Reference	Rs193922235(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48713776delG
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029779.1,