rs587777282
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587777282(-;-) |
Make rs587777282(-;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 16995708 |
Gene | FGF20 |
is a | snp |
is | mentioned by |
dbSNP | rs587777282 |
dbSNP (classic) | rs587777282 |
ClinGen | rs587777282 |
ebi | rs587777282 |
HLI | rs587777282 |
Exac | rs587777282 |
Gnomad | rs587777282 |
Varsome | rs587777282 |
LitVar | rs587777282 |
Map | rs587777282 |
PheGenI | rs587777282 |
Biobank | rs587777282 |
1000 genomes | rs587777282 |
hgdp | rs587777282 |
ensembl | rs587777282 |
geneview | rs587777282 |
scholar | rs587777282 |
rs587777282 | |
pharmgkb | rs587777282 |
gwascentral | rs587777282 |
openSNP | rs587777282 |
23andMe | rs587777282 |
SNPshot | rs587777282 |
SNPdbe | rs587777282 |
MSV3d | rs587777282 |
GWAS Ctlg | rs587777282 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777282(C;C) rs587777282(-;-) |
Alt | Rs587777282(C;C) rs587777282(-;-) |
Reference | Rs587777282(G;G) |
Significance | Pathogenic |
Disease | Renal hypodysplasia/aplasia 2 |
Variation | info |
Gene | FGF20 |
CLNDBN | Renal hypodysplasia/aplasia 2 |
Reversed | 1 |
HGVS | NC_000008.10:g.16853217delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114397.3, |