rs140950220
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140950220(C;C) |
Make rs140950220(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 114195977 |
Gene | COL27A1 |
is a | snp |
is | mentioned by |
dbSNP | rs140950220 |
dbSNP (classic) | rs140950220 |
ClinGen | rs140950220 |
ebi | rs140950220 |
HLI | rs140950220 |
Exac | rs140950220 |
Gnomad | rs140950220 |
Varsome | rs140950220 |
LitVar | rs140950220 |
Map | rs140950220 |
PheGenI | rs140950220 |
Biobank | rs140950220 |
1000 genomes | rs140950220 |
hgdp | rs140950220 |
ensembl | rs140950220 |
geneview | rs140950220 |
scholar | rs140950220 |
rs140950220 | |
pharmgkb | rs140950220 |
gwascentral | rs140950220 |
openSNP | rs140950220 |
23andMe | rs140950220 |
SNPshot | rs140950220 |
SNPdbe | rs140950220 |
MSV3d | rs140950220 |
GWAS Ctlg | rs140950220 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140950220(C;C) |
Alt | rs140950220(C;C) |
Reference | Rs140950220(G;G) |
Significance | Pathogenic |
Disease | Steel syndrome not provided |
Variation | info |
Gene | COL27A1 |
CLNDBN | Steel syndrome not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.116958257G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000132771.3, RCV000337500.1, |