rs794728231

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5.5	Marfan syndrome mutation

Make rs794728231(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

48465622

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs794728231
dbSNP (classic)	rs794728231
ClinGen	rs794728231
ebi	rs794728231
HLI	rs794728231
Exac	rs794728231
Gnomad	rs794728231
Varsome	rs794728231
LitVar	rs794728231
Map	rs794728231
PheGenI	rs794728231
Biobank	rs794728231
1000 genomes	rs794728231
hgdp	rs794728231
ensembl	rs794728231
geneview	rs794728231
scholar	rs794728231
google	rs794728231
pharmgkb	rs794728231
gwascentral	rs794728231
openSNP	rs794728231
23andMe	rs794728231
SNPshot	rs794728231
SNPdbe	rs794728231
MSV3d	rs794728231
GWAS Ctlg	rs794728231

Max Magnitude

5.5

ClinVar
Risk	rs794728231(T;T)
Alt	rs794728231(T;T)
Reference	Rs794728231(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	FBN1
CLNDBN	not provided
Reversed	1
HGVS	NC_000015.9:g.48757819G>A
CLNSRC
CLNACC	RCV000181535.1,