rs193922239

Orientation

minus

Stabilized

minus

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

Make rs193922239(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48415708

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922239
dbSNP (classic)	rs193922239
ClinGen	rs193922239
ebi	rs193922239
HLI	rs193922239
Exac	rs193922239
Gnomad	rs193922239
Varsome	rs193922239
LitVar	rs193922239
Map	rs193922239
PheGenI	rs193922239
Biobank	rs193922239
1000 genomes	rs193922239
hgdp	rs193922239
ensembl	rs193922239
geneview	rs193922239
scholar	rs193922239
google	rs193922239
pharmgkb	rs193922239
gwascentral	rs193922239
openSNP	rs193922239
23andMe	rs193922239
SNPshot	rs193922239
SNPdbe	rs193922239
MSV3d	rs193922239
GWAS Ctlg	rs193922239

Max Magnitude

6.5

ClinVar
Risk	rs193922239(A;A) rs193922239(C;C)
Alt	rs193922239(A;A) rs193922239(C;C)
Reference	Rs193922239(G;G)
Significance	Probable-Pathogenic
Disease	not provided Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	not provided Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48707905C>G; NC_000015.9:g.48707905C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000414309.1, RCV000029784.1,

[PMID 879152] The effect of prolactin on canine pancreatic secretion. Implications on the pathogenesis of the pancreatitis of pregnancy.

[PMID 7977366] A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

[PMID 10633129] The molecular genetics of Marfan syndrome and related microfibrillopathies.

[PMID 11826022] Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

[PMID 12203992] TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

[PMID 17568394] Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.