rs515726153
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs515726153(C;C) |
Make rs515726153(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 109796638 |
Gene | TRPV4 |
is a | snp |
is | mentioned by |
dbSNP | rs515726153 |
dbSNP (classic) | rs515726153 |
ClinGen | rs515726153 |
ebi | rs515726153 |
HLI | rs515726153 |
Exac | rs515726153 |
Gnomad | rs515726153 |
Varsome | rs515726153 |
LitVar | rs515726153 |
Map | rs515726153 |
PheGenI | rs515726153 |
Biobank | rs515726153 |
1000 genomes | rs515726153 |
hgdp | rs515726153 |
ensembl | rs515726153 |
geneview | rs515726153 |
scholar | rs515726153 |
rs515726153 | |
pharmgkb | rs515726153 |
gwascentral | rs515726153 |
openSNP | rs515726153 |
23andMe | rs515726153 |
SNPshot | rs515726153 |
SNPdbe | rs515726153 |
MSV3d | rs515726153 |
GWAS Ctlg | rs515726153 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726153(C;C) |
Alt | rs515726153(C;C) |
Reference | Rs515726153(T;T) |
Significance | Pathogenic |
Disease | Skeletal dysplasia |
Variation | info |
Gene | TRPV4 |
CLNDBN | Skeletal dysplasia |
Reversed | 0 |
HGVS | NC_000012.11:g.110234443T>C |
CLNSRC | |
CLNACC | RCV000202504.1, |