rs147195031

Marfan syndrome for homozygous recessive

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	2	Unaffected carrier of Marfan syndrome variant
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

15

Position

48420780

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs147195031
dbSNP (classic)	rs147195031
ClinGen	rs147195031
ebi	rs147195031
HLI	rs147195031
Exac	rs147195031
Gnomad	rs147195031
Varsome	rs147195031
LitVar	rs147195031
Map	rs147195031
PheGenI	rs147195031
Biobank	rs147195031
1000 genomes	rs147195031
hgdp	rs147195031
ensembl	rs147195031
geneview	rs147195031
scholar	rs147195031
google	rs147195031
pharmgkb	rs147195031
gwascentral	rs147195031
openSNP	rs147195031
23andMe	rs147195031
SNPshot	rs147195031
SNPdbe	rs147195031
MSV3d	rs147195031
GWAS Ctlg	rs147195031

Max Magnitude

2

ClinVar
Risk	Rs147195031(A;A)
Alt	Rs147195031(A;A)
Reference	Rs147195031(G;G)
Significance	Pathogenic
Disease	Marfan syndrome Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome Marfan syndrome, autosomal recessive
Reversed	0
HGVS	NC_000015.9:g.48712977G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029780.1, RCV000083258.4,

A patient with two copies of the minor allele of this FBN1 gene SNP has been diagnosed as being a patient with Marfan Syndrome.[PMID 23278365]

See also: OMIM 134797.0068