rs139617644
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139617644(A;A) |
Make rs139617644(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 68049080 |
Gene | TCIRG1 |
is a | snp |
is | mentioned by |
dbSNP | rs139617644 |
dbSNP (classic) | rs139617644 |
ClinGen | rs139617644 |
ebi | rs139617644 |
HLI | rs139617644 |
Exac | rs139617644 |
Gnomad | rs139617644 |
Varsome | rs139617644 |
LitVar | rs139617644 |
Map | rs139617644 |
PheGenI | rs139617644 |
Biobank | rs139617644 |
1000 genomes | rs139617644 |
hgdp | rs139617644 |
ensembl | rs139617644 |
geneview | rs139617644 |
scholar | rs139617644 |
rs139617644 | |
pharmgkb | rs139617644 |
gwascentral | rs139617644 |
openSNP | rs139617644 |
23andMe | rs139617644 |
SNPshot | rs139617644 |
SNPdbe | rs139617644 |
MSV3d | rs139617644 |
GWAS Ctlg | rs139617644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139617644(A;A) |
Alt | rs139617644(A;A) |
Reference | Rs139617644(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.67816547G>A |
CLNSRC | |
CLNACC | RCV000169678.1, |