rs193922210

Orientation

minus

Stabilized

minus

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

Make rs193922210(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48596337

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922210
dbSNP (classic)	rs193922210
ClinGen	rs193922210
ebi	rs193922210
HLI	rs193922210
Exac	rs193922210
Gnomad	rs193922210
Varsome	rs193922210
LitVar	rs193922210
Map	rs193922210
PheGenI	rs193922210
Biobank	rs193922210
1000 genomes	rs193922210
hgdp	rs193922210
ensembl	rs193922210
geneview	rs193922210
scholar	rs193922210
google	rs193922210
pharmgkb	rs193922210
gwascentral	rs193922210
openSNP	rs193922210
23andMe	rs193922210
SNPshot	rs193922210
SNPdbe	rs193922210
MSV3d	rs193922210
GWAS Ctlg	rs193922210

Max Magnitude

5.5

ClinVar
Risk	rs193922210(A;A)
Alt	rs193922210(A;A)
Reference	Rs193922210(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48888534C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029745.1,