rs111231312

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.5	Familial thoracic aortic aneurysms and dissections (FTAAD)

Make rs111231312(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48468070

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs111231312
dbSNP (classic)	rs111231312
ClinGen	rs111231312
ebi	rs111231312
HLI	rs111231312
Exac	rs111231312
Gnomad	rs111231312
Varsome	rs111231312
LitVar	rs111231312
Map	rs111231312
PheGenI	rs111231312
Biobank	rs111231312
1000 genomes	rs111231312
hgdp	rs111231312
ensembl	rs111231312
geneview	rs111231312
scholar	rs111231312
google	rs111231312
pharmgkb	rs111231312
gwascentral	rs111231312
openSNP	rs111231312
23andMe	rs111231312
SNPshot	rs111231312
SNPdbe	rs111231312
MSV3d	rs111231312
GWAS Ctlg	rs111231312

Max Magnitude

6.5

ClinVar
Risk	rs111231312(T;T)
Alt	rs111231312(T;T)
Reference	Rs111231312(C;C)
Significance	Pathogenic
Disease	Marfan syndrome not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000015.9:g.48760267G>A
CLNSRC	ClinVar
CLNACC	RCV000035206.3, RCV000181528.2, RCV000241811.1,