rs137854475

Orientation

minus

Stabilized

minus

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

Make rs137854475(A;A)

Make rs137854475(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48487155

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854475
dbSNP (classic)	rs137854475
ClinGen	rs137854475
ebi	rs137854475
HLI	rs137854475
Exac	rs137854475
Gnomad	rs137854475
Varsome	rs137854475
LitVar	rs137854475
Map	rs137854475
PheGenI	rs137854475
Biobank	rs137854475
1000 genomes	rs137854475
hgdp	rs137854475
ensembl	rs137854475
geneview	rs137854475
scholar	rs137854475
google	rs137854475
pharmgkb	rs137854475
gwascentral	rs137854475
openSNP	rs137854475
23andMe	rs137854475
SNPshot	rs137854475
SNPdbe	rs137854475
MSV3d	rs137854475
GWAS Ctlg	rs137854475

GMAF

0.0004591

Max Magnitude

0

OMIM	134797
Desc
Variant	0032
Related	also

ClinVar
Risk	rs137854475(A;A)
Alt	rs137854475(A;A)
Reference	Rs137854475(G;G)
Significance	Other
Disease	Marfan syndrome not specified Marfanoid habitus Thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia Weill-Marchesani syndrome Stiff skin syndrome Ectopia lentis Acromicric dysplasia MASS syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not specified Marfanoid habitus Thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia Weill-Marchesani syndrome Stiff skin syndrome Ectopia lentis Acromicric dysplasia MASS syndrome
Reversed	1
HGVS	NC_000015.9:g.48779352C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148494.3, RCV000154459.5, RCV000157227.1, RCV000231987.2, RCV000242225.2, RCV000290413.1, RCV000297783.1, RCV000305937.1, RCV000340663.1, RCV000357267.1, RCV000360569.2,