rs119460973
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs119460973(A;A) |
Make rs119460973(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 108074616 |
Gene | OSTM1 |
is a | snp |
is | mentioned by |
dbSNP | rs119460973 |
dbSNP (classic) | rs119460973 |
ClinGen | rs119460973 |
ebi | rs119460973 |
HLI | rs119460973 |
Exac | rs119460973 |
Gnomad | rs119460973 |
Varsome | rs119460973 |
LitVar | rs119460973 |
Map | rs119460973 |
PheGenI | rs119460973 |
Biobank | rs119460973 |
1000 genomes | rs119460973 |
hgdp | rs119460973 |
ensembl | rs119460973 |
geneview | rs119460973 |
scholar | rs119460973 |
rs119460973 | |
pharmgkb | rs119460973 |
gwascentral | rs119460973 |
openSNP | rs119460973 |
23andMe | rs119460973 |
SNPshot | rs119460973 |
SNPdbe | rs119460973 |
MSV3d | rs119460973 |
GWAS Ctlg | rs119460973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119460973(A;A) |
Alt | rs119460973(A;A) |
Reference | Rs119460973(T;T) |
Significance | Pathogenic |
Disease | Osteopetrosis |
Variation | info |
Gene | OSTM1 |
CLNDBN | Osteopetrosis, autosomal recessive 5 |
Reversed | 1 |
HGVS | NC_000006.11:g.108395820A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003078.2, |