rs727504347

Orientation

minus

Stabilized

minus

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

Make rs727504347(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48463240

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs727504347
dbSNP (classic)	rs727504347
ClinGen	rs727504347
ebi	rs727504347
HLI	rs727504347
Exac	rs727504347
Gnomad	rs727504347
Varsome	rs727504347
LitVar	rs727504347
Map	rs727504347
PheGenI	rs727504347
Biobank	rs727504347
1000 genomes	rs727504347
hgdp	rs727504347
ensembl	rs727504347
geneview	rs727504347
scholar	rs727504347
google	rs727504347
pharmgkb	rs727504347
gwascentral	rs727504347
openSNP	rs727504347
23andMe	rs727504347
SNPshot	rs727504347
SNPdbe	rs727504347
MSV3d	rs727504347
GWAS Ctlg	rs727504347

Max Magnitude

5.5

ClinVar
Risk	rs727504347(-;-)
Alt	rs727504347(-;-)
Reference	Rs727504347(A;A)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48755437delT
CLNSRC
CLNACC	RCV000154468.1,