rs121912955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912955(A;A) |
Make rs121912955(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 55491830 |
Gene | MMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs121912955 |
dbSNP (classic) | rs121912955 |
ClinGen | rs121912955 |
ebi | rs121912955 |
HLI | rs121912955 |
Exac | rs121912955 |
Gnomad | rs121912955 |
Varsome | rs121912955 |
LitVar | rs121912955 |
Map | rs121912955 |
PheGenI | rs121912955 |
Biobank | rs121912955 |
1000 genomes | rs121912955 |
hgdp | rs121912955 |
ensembl | rs121912955 |
geneview | rs121912955 |
scholar | rs121912955 |
rs121912955 | |
pharmgkb | rs121912955 |
gwascentral | rs121912955 |
openSNP | rs121912955 |
23andMe | rs121912955 |
SNPshot | rs121912955 |
SNPdbe | rs121912955 |
MSV3d | rs121912955 |
GWAS Ctlg | rs121912955 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912955(A;A) |
Alt | rs121912955(A;A) |
Reference | Rs121912955(G;G) |
Significance | Pathogenic |
Disease | Multicentric osteolysis |
Variation | info |
Gene | MMP2 |
CLNDBN | Multicentric osteolysis, nodulosis and arthropathy |
Reversed | 0 |
HGVS | NC_000016.9:g.55525742G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018645.28, |