rs112642323

Orientation

minus

Stabilized

minus

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

Make rs112642323(C;G)

Make rs112642323(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

48412647

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs112642323
dbSNP (classic)	rs112642323
ClinGen	rs112642323
ebi	rs112642323
HLI	rs112642323
Exac	rs112642323
Gnomad	rs112642323
Varsome	rs112642323
LitVar	rs112642323
Map	rs112642323
PheGenI	rs112642323
Biobank	rs112642323
1000 genomes	rs112642323
hgdp	rs112642323
ensembl	rs112642323
geneview	rs112642323
scholar	rs112642323
google	rs112642323
pharmgkb	rs112642323
gwascentral	rs112642323
openSNP	rs112642323
23andMe	rs112642323
SNPshot	rs112642323
SNPdbe	rs112642323
MSV3d	rs112642323
GWAS Ctlg	rs112642323

Max Magnitude

0

ClinVar
Risk	rs112642323(G;G) rs112642323(T;T)
Alt	rs112642323(G;G) rs112642323(T;T)
Reference	Rs112642323(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48704844G>C
CLNSRC
CLNACC	RCV000208411.1,