rs150181226
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs150181226(A;G) |
Make rs150181226(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 78995182 |
Gene | CANT1 |
is a | snp |
is | mentioned by |
dbSNP | rs150181226 |
dbSNP (classic) | rs150181226 |
ClinGen | rs150181226 |
ebi | rs150181226 |
HLI | rs150181226 |
Exac | rs150181226 |
Gnomad | rs150181226 |
Varsome | rs150181226 |
LitVar | rs150181226 |
Map | rs150181226 |
PheGenI | rs150181226 |
Biobank | rs150181226 |
1000 genomes | rs150181226 |
hgdp | rs150181226 |
ensembl | rs150181226 |
geneview | rs150181226 |
scholar | rs150181226 |
rs150181226 | |
pharmgkb | rs150181226 |
gwascentral | rs150181226 |
openSNP | rs150181226 |
23andMe | rs150181226 |
SNPshot | rs150181226 |
SNPdbe | rs150181226 |
MSV3d | rs150181226 |
GWAS Ctlg | rs150181226 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150181226(G;G) |
Alt | rs150181226(G;G) |
Reference | Rs150181226(A;A) |
Significance | Pathogenic |
Disease | Desbuquois dysplasia 1 |
Variation | info |
Gene | CANT1 |
CLNDBN | Desbuquois dysplasia 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.76991264A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024008.4, |