rs398122934
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GCCAGTG) | 5.5 | Marfan syndrome mutation |
(GCCAGTG;GCCAGTG) | 0 | common in clinvar |
Make rs398122934(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48472628 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122934 |
dbSNP (classic) | rs398122934 |
ClinGen | rs398122934 |
ebi | rs398122934 |
HLI | rs398122934 |
Exac | rs398122934 |
Gnomad | rs398122934 |
Varsome | rs398122934 |
LitVar | rs398122934 |
Map | rs398122934 |
PheGenI | rs398122934 |
Biobank | rs398122934 |
1000 genomes | rs398122934 |
hgdp | rs398122934 |
ensembl | rs398122934 |
geneview | rs398122934 |
scholar | rs398122934 |
rs398122934 | |
pharmgkb | rs398122934 |
gwascentral | rs398122934 |
openSNP | rs398122934 |
23andMe | rs398122934 |
SNPshot | rs398122934 |
SNPdbe | rs398122934 |
MSV3d | rs398122934 |
GWAS Ctlg | rs398122934 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs398122934(-;-) |
Alt | rs398122934(-;-) |
Reference | Rs398122934(GCCAGTG;GCCAGTG) |
Significance | Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48764825_48764831delCACTGGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034311.25, |