rs140593

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs140593(A;A)

Make rs140593(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48489896

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs140593
dbSNP (classic)	rs140593
ClinGen	rs140593
ebi	rs140593
HLI	rs140593
Exac	rs140593
Gnomad	rs140593
Varsome	rs140593
LitVar	rs140593
Map	rs140593
PheGenI	rs140593
Biobank	rs140593
1000 genomes	rs140593
hgdp	rs140593
ensembl	rs140593
geneview	rs140593
scholar	rs140593
google	rs140593
pharmgkb	rs140593
gwascentral	rs140593
openSNP	rs140593
23andMe	rs140593
SNPshot	rs140593
SNPdbe	rs140593
MSV3d	rs140593
GWAS Ctlg	rs140593

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	134797
Desc
Variant	0036
Related	also

ClinVar
Risk	rs140593(A;A) rs140593(C;C)
Alt	rs140593(A;A) rs140593(C;C)
Reference	Rs140593(G;G)
Significance	Pathogenic
Disease	Marfan syndrome not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.48782093C>G; NC_000015.9:g.48782093C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017918.27, RCV000154235.3, RCV000181476.2,