rs515726155
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs515726155(-;AGG) |
Make rs515726155(AGG;AGG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 109793948 |
Gene | TRPV4 |
is a | snp |
is | mentioned by |
dbSNP | rs515726155 |
dbSNP (classic) | rs515726155 |
ClinGen | rs515726155 |
ebi | rs515726155 |
HLI | rs515726155 |
Exac | rs515726155 |
Gnomad | rs515726155 |
Varsome | rs515726155 |
LitVar | rs515726155 |
Map | rs515726155 |
PheGenI | rs515726155 |
Biobank | rs515726155 |
1000 genomes | rs515726155 |
hgdp | rs515726155 |
ensembl | rs515726155 |
geneview | rs515726155 |
scholar | rs515726155 |
rs515726155 | |
pharmgkb | rs515726155 |
gwascentral | rs515726155 |
openSNP | rs515726155 |
23andMe | rs515726155 |
SNPshot | rs515726155 |
SNPdbe | rs515726155 |
MSV3d | rs515726155 |
GWAS Ctlg | rs515726155 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726155(AGG;AGG) |
Alt | rs515726155(AGG;AGG) |
Reference | Rs515726155(-;-) |
Significance | Pathogenic |
Disease | Skeletal dysplasia |
Variation | info |
Gene | TRPV4 |
CLNDBN | Skeletal dysplasia |
Reversed | 0 |
HGVS | NC_000012.11:g.110231751_110231753dupAGG |
CLNSRC | |
CLNACC | RCV000202461.1, |