rs193922214

Orientation

minus

Stabilized

minus

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

Make rs193922214(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48448887

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922214
dbSNP (classic)	rs193922214
ClinGen	rs193922214
ebi	rs193922214
HLI	rs193922214
Exac	rs193922214
Gnomad	rs193922214
Varsome	rs193922214
LitVar	rs193922214
Map	rs193922214
PheGenI	rs193922214
Biobank	rs193922214
1000 genomes	rs193922214
hgdp	rs193922214
ensembl	rs193922214
geneview	rs193922214
scholar	rs193922214
google	rs193922214
pharmgkb	rs193922214
gwascentral	rs193922214
openSNP	rs193922214
23andMe	rs193922214
SNPshot	rs193922214
SNPdbe	rs193922214
MSV3d	rs193922214
GWAS Ctlg	rs193922214

Max Magnitude

5.5

ClinVar
Risk	rs193922214(G;G)
Alt	rs193922214(G;G)
Reference	Rs193922214(A;A)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48741084T>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029752.1,