rs112989722

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;G)	6.5	Familial thoracic aortic aneurysms and dissections (FTAAD)
(C;T)	6	Marfan syndrome mutation

Make rs112989722(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48437347

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs112989722
dbSNP (classic)	rs112989722
ClinGen	rs112989722
ebi	rs112989722
HLI	rs112989722
Exac	rs112989722
Gnomad	rs112989722
Varsome	rs112989722
LitVar	rs112989722
Map	rs112989722
PheGenI	rs112989722
Biobank	rs112989722
1000 genomes	rs112989722
hgdp	rs112989722
ensembl	rs112989722
geneview	rs112989722
scholar	rs112989722
google	rs112989722
pharmgkb	rs112989722
gwascentral	rs112989722
openSNP	rs112989722
23andMe	rs112989722
SNPshot	rs112989722
SNPdbe	rs112989722
MSV3d	rs112989722
GWAS Ctlg	rs112989722

Max Magnitude

6.5

aka c.6354C>G (p.Ile2118Met or I2118M) and also c.6354C>T (p.Ile2118=); both are considered in ClinVar as likely to be pathogenic for Marfan syndrome.

OMIM	134797
Desc
Variant	0030
Related	also

ClinVar
Risk	rs112989722(G;G) rs112989722(T;T)
Alt	rs112989722(G;G) rs112989722(T;T)
Reference	Rs112989722(C;C)
Significance	Other
Disease	Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided
Reversed	1
HGVS	NC_000015.9:g.48729544G>A; NC_000015.9:g.48729544G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017912.33, RCV000245874.1, RCV000483725.1, RCV000156842.2,