rs137853150
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853150(A;A) |
Make rs137853150(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 68047480 |
Gene | TCIRG1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853150 |
dbSNP (classic) | rs137853150 |
ClinGen | rs137853150 |
ebi | rs137853150 |
HLI | rs137853150 |
Exac | rs137853150 |
Gnomad | rs137853150 |
Varsome | rs137853150 |
LitVar | rs137853150 |
Map | rs137853150 |
PheGenI | rs137853150 |
Biobank | rs137853150 |
1000 genomes | rs137853150 |
hgdp | rs137853150 |
ensembl | rs137853150 |
geneview | rs137853150 |
scholar | rs137853150 |
rs137853150 | |
pharmgkb | rs137853150 |
gwascentral | rs137853150 |
openSNP | rs137853150 |
23andMe | rs137853150 |
SNPshot | rs137853150 |
SNPdbe | rs137853150 |
MSV3d | rs137853150 |
GWAS Ctlg | rs137853150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853150(A;A) |
Alt | rs137853150(A;A) |
Reference | Rs137853150(G;G) |
Significance | Pathogenic |
Disease | Osteopetrosis autosomal recessive 1 |
Variation | info |
Gene | TCIRG1 |
CLNDBN | Osteopetrosis autosomal recessive 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.67814947G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005796.2, |