rs515726166
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGTCTCATTCTTGCCCG;GGTCTCATTCTTGCCCG) | 0 | common in clinvar |
Make rs515726166(-;-) |
Make rs515726166(-;GGTCTCATTCTTGCCCG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 109784362 |
Gene | TRPV4 |
is a | snp |
is | mentioned by |
dbSNP | rs515726166 |
dbSNP (classic) | rs515726166 |
ClinGen | rs515726166 |
ebi | rs515726166 |
HLI | rs515726166 |
Exac | rs515726166 |
Gnomad | rs515726166 |
Varsome | rs515726166 |
LitVar | rs515726166 |
Map | rs515726166 |
PheGenI | rs515726166 |
Biobank | rs515726166 |
1000 genomes | rs515726166 |
hgdp | rs515726166 |
ensembl | rs515726166 |
geneview | rs515726166 |
scholar | rs515726166 |
rs515726166 | |
pharmgkb | rs515726166 |
gwascentral | rs515726166 |
openSNP | rs515726166 |
23andMe | rs515726166 |
SNPshot | rs515726166 |
SNPdbe | rs515726166 |
MSV3d | rs515726166 |
GWAS Ctlg | rs515726166 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726166(-;-) |
Alt | rs515726166(-;-) |
Reference | Rs515726166(GGTCTCATTCTTGCCCG;GGTCTCATTCTTGCCCG) |
Significance | Pathogenic |
Disease | Neuromuscular Diseases Skeletal dysplasia |
Variation | info |
Gene | TRPV4 |
CLNDBN | Neuromuscular Diseases Skeletal dysplasia |
Reversed | 0 |
HGVS | NC_000012.11:g.110222167_110222183del17 |
CLNSRC | |
CLNACC | RCV000202488.1, |