rs267607147
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267607147(C;T) |
Make rs267607147(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 109784379 |
Gene | TRPV4 |
is a | snp |
is | mentioned by |
dbSNP | rs267607147 |
dbSNP (classic) | rs267607147 |
ClinGen | rs267607147 |
ebi | rs267607147 |
HLI | rs267607147 |
Exac | rs267607147 |
Gnomad | rs267607147 |
Varsome | rs267607147 |
LitVar | rs267607147 |
Map | rs267607147 |
PheGenI | rs267607147 |
Biobank | rs267607147 |
1000 genomes | rs267607147 |
hgdp | rs267607147 |
ensembl | rs267607147 |
geneview | rs267607147 |
scholar | rs267607147 |
rs267607147 | |
pharmgkb | rs267607147 |
gwascentral | rs267607147 |
openSNP | rs267607147 |
23andMe | rs267607147 |
SNPshot | rs267607147 |
SNPdbe | rs267607147 |
MSV3d | rs267607147 |
GWAS Ctlg | rs267607147 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607147(G;G) rs267607147(T;T) |
Alt | rs267607147(G;G) rs267607147(T;T) |
Reference | Rs267607147(C;C) |
Significance | Pathogenic |
Disease | Metatrophic dysplasia Skeletal dysplasia |
Variation | info |
Gene | TRPV4 |
CLNDBN | Metatrophic dysplasia Skeletal dysplasia |
Reversed | 1 |
HGVS | NC_000012.11:g.110222184G>A; NC_000012.11:g.110222184G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005299.3, RCV000202484.1, RCV000005298.3, |