rs794728234

Orientation

minus

Stabilized

minus

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

Make rs794728234(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

48463098

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs794728234
dbSNP (classic)	rs794728234
ClinGen	rs794728234
ebi	rs794728234
HLI	rs794728234
Exac	rs794728234
Gnomad	rs794728234
Varsome	rs794728234
LitVar	rs794728234
Map	rs794728234
PheGenI	rs794728234
Biobank	rs794728234
1000 genomes	rs794728234
hgdp	rs794728234
ensembl	rs794728234
geneview	rs794728234
scholar	rs794728234
google	rs794728234
pharmgkb	rs794728234
gwascentral	rs794728234
openSNP	rs794728234
23andMe	rs794728234
SNPshot	rs794728234
SNPdbe	rs794728234
MSV3d	rs794728234
GWAS Ctlg	rs794728234

Max Magnitude

5.5

ClinVar
Risk	rs794728234(A;A)
Alt	rs794728234(A;A)
Reference	Rs794728234(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	FBN1
CLNDBN	not provided
Reversed	1
HGVS	NC_000015.9:g.48755295A>T
CLNSRC
CLNACC	RCV000181539.1,