rs869025421

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;C)	5.5	Marfan syndrome mutation
(C;C)	0	common in clinvar
(I;I)	0	common genotype

Make rs869025421(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

48474268

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs869025421
dbSNP (classic)	rs869025421
ClinGen	rs869025421
ebi	rs869025421
HLI	rs869025421
Exac	rs869025421
Gnomad	rs869025421
Varsome	rs869025421
LitVar	rs869025421
Map	rs869025421
PheGenI	rs869025421
Biobank	rs869025421
1000 genomes	rs869025421
hgdp	rs869025421
ensembl	rs869025421
geneview	rs869025421
scholar	rs869025421
google	rs869025421
pharmgkb	rs869025421
gwascentral	rs869025421
openSNP	rs869025421
23andMe	rs869025421
SNPshot	rs869025421
SNPdbe	rs869025421
MSV3d	rs869025421
GWAS Ctlg	rs869025421

Max Magnitude

5.5

ClinVar
Risk	rs869025421(-;-)
Alt	rs869025421(-;-)
Reference	Rs869025421(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48766465delG
CLNSRC
CLNACC	RCV000208483.1,