rs137854464

Orientation

minus

Stabilized

minus

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

Make rs137854464(A;A)

Make rs137854464(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48425483

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854464
dbSNP (classic)	rs137854464
ClinGen	rs137854464
ebi	rs137854464
HLI	rs137854464
Exac	rs137854464
Gnomad	rs137854464
Varsome	rs137854464
LitVar	rs137854464
Map	rs137854464
PheGenI	rs137854464
Biobank	rs137854464
1000 genomes	rs137854464
hgdp	rs137854464
ensembl	rs137854464
geneview	rs137854464
scholar	rs137854464
google	rs137854464
pharmgkb	rs137854464
gwascentral	rs137854464
openSNP	rs137854464
23andMe	rs137854464
SNPshot	rs137854464
SNPdbe	rs137854464
MSV3d	rs137854464
GWAS Ctlg	rs137854464

Max Magnitude

0

OMIM	134797
Desc
Variant	0015
Related	also

ClinVar
Risk	rs137854464(A;A)
Alt	rs137854464(A;A)
Reference	Rs137854464(G;G)
Significance	Pathogenic
Disease	Ectopia lentis Marfan syndrome not provided
Variation	info
Gene	FBN1
CLNDBN	Ectopia lentis, isolated, autosomal dominant Marfan syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.48717680C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017899.28, RCV000417099.1, RCV000422790.1,