rs113871094

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	Marfan syndrome mutation

Make rs113871094(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48465820

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs113871094
dbSNP (classic)	rs113871094
ClinGen	rs113871094
ebi	rs113871094
HLI	rs113871094
Exac	rs113871094
Gnomad	rs113871094
Varsome	rs113871094
LitVar	rs113871094
Map	rs113871094
PheGenI	rs113871094
Biobank	rs113871094
1000 genomes	rs113871094
hgdp	rs113871094
ensembl	rs113871094
geneview	rs113871094
scholar	rs113871094
google	rs113871094
pharmgkb	rs113871094
gwascentral	rs113871094
openSNP	rs113871094
23andMe	rs113871094
SNPshot	rs113871094
SNPdbe	rs113871094
MSV3d	rs113871094
GWAS Ctlg	rs113871094

Max Magnitude

6

ClinVar
Risk	rs113871094(T;T)
Alt	rs113871094(T;T)
Reference	Rs113871094(C;C)
Significance	Pathogenic
Disease	Marfan syndrome not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.48758017G>A
CLNSRC	ClinVar
CLNACC	RCV000029744.4, RCV000181534.4,

[PMID 15241] Population policy 1977: a reexamination of the issues.

[PMID 11700157] Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

[PMID 11933199] Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

[PMID 16756980] Preimplantation genetic diagnosis for Marfan syndrome.

[PMID 17718856] Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

[PMID 19618372] Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.