rs137854487
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137854487(G;G) |
Make rs137854487(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 215375685 |
Gene | FN1 |
is a | snp |
is | mentioned by |
dbSNP | rs137854487 |
dbSNP (classic) | rs137854487 |
ClinGen | rs137854487 |
ebi | rs137854487 |
HLI | rs137854487 |
Exac | rs137854487 |
Gnomad | rs137854487 |
Varsome | rs137854487 |
LitVar | rs137854487 |
Map | rs137854487 |
PheGenI | rs137854487 |
Biobank | rs137854487 |
1000 genomes | rs137854487 |
hgdp | rs137854487 |
ensembl | rs137854487 |
geneview | rs137854487 |
scholar | rs137854487 |
rs137854487 | |
pharmgkb | rs137854487 |
gwascentral | rs137854487 |
openSNP | rs137854487 |
23andMe | rs137854487 |
SNPshot | rs137854487 |
SNPdbe | rs137854487 |
MSV3d | rs137854487 |
GWAS Ctlg | rs137854487 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854487(C;C) rs137854487(G;G) |
Alt | rs137854487(C;C) rs137854487(G;G) |
Reference | Rs137854487(T;T) |
Significance | Pathogenic |
Disease | Glomerulopathy with fibronectin deposits 2 |
Variation | info |
Gene | FN1 |
CLNDBN | Glomerulopathy with fibronectin deposits 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.216240408A>C; NC_000002.11:g.216240408A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017721.27, RCV000207403.1, |