rs121908658
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908658(G;T) |
Make rs121908658(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 62361793 |
Gene | TNFRSF11A |
is a | snp |
is | mentioned by |
dbSNP | rs121908658 |
dbSNP (classic) | rs121908658 |
ClinGen | rs121908658 |
ebi | rs121908658 |
HLI | rs121908658 |
Exac | rs121908658 |
Gnomad | rs121908658 |
Varsome | rs121908658 |
LitVar | rs121908658 |
Map | rs121908658 |
PheGenI | rs121908658 |
Biobank | rs121908658 |
1000 genomes | rs121908658 |
hgdp | rs121908658 |
ensembl | rs121908658 |
geneview | rs121908658 |
scholar | rs121908658 |
rs121908658 | |
pharmgkb | rs121908658 |
gwascentral | rs121908658 |
openSNP | rs121908658 |
23andMe | rs121908658 |
SNPshot | rs121908658 |
SNPdbe | rs121908658 |
MSV3d | rs121908658 |
GWAS Ctlg | rs121908658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908658(T;T) |
Alt | rs121908658(T;T) |
Reference | Rs121908658(G;G) |
Significance | Pathogenic |
Disease | Osteopetrosis autosomal recessive 7 |
Variation | info |
Gene | TNFRSF11A |
CLNDBN | Osteopetrosis autosomal recessive 7 |
Reversed | 0 |
HGVS | NC_000018.9:g.60029026G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006684.3, |