rs111978932

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	5.5	Marfan syndrome mutation
(C;T)	5.5	Marfan syndrome mutation

Make rs111978932(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

48470639

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs111978932
dbSNP (classic)	rs111978932
ClinGen	rs111978932
ebi	rs111978932
HLI	rs111978932
Exac	rs111978932
Gnomad	rs111978932
Varsome	rs111978932
LitVar	rs111978932
Map	rs111978932
PheGenI	rs111978932
Biobank	rs111978932
1000 genomes	rs111978932
hgdp	rs111978932
ensembl	rs111978932
geneview	rs111978932
scholar	rs111978932
google	rs111978932
pharmgkb	rs111978932
gwascentral	rs111978932
openSNP	rs111978932
23andMe	rs111978932
SNPshot	rs111978932
SNPdbe	rs111978932
MSV3d	rs111978932
GWAS Ctlg	rs111978932

Merged from

Rs878853683

Max Magnitude

5.5

ClinVar
Risk	rs111978932(G;G)
Alt	rs111978932(G;G)
Reference	Rs111978932(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	0
HGVS	NC_000015.9:g.48762836C>G
CLNSRC
CLNACC	RCV000232283.1,