rs52826764
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs52826764(A;A) |
Make rs52826764(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 20005780 |
Gene | MATN3 |
is a | snp |
is | mentioned by |
dbSNP | rs52826764 |
dbSNP (classic) | rs52826764 |
ClinGen | rs52826764 |
ebi | rs52826764 |
HLI | rs52826764 |
Exac | rs52826764 |
Gnomad | rs52826764 |
Varsome | rs52826764 |
LitVar | rs52826764 |
Map | rs52826764 |
PheGenI | rs52826764 |
Biobank | rs52826764 |
1000 genomes | rs52826764 |
hgdp | rs52826764 |
ensembl | rs52826764 |
geneview | rs52826764 |
scholar | rs52826764 |
rs52826764 | |
pharmgkb | rs52826764 |
gwascentral | rs52826764 |
openSNP | rs52826764 |
23andMe | rs52826764 |
SNPshot | rs52826764 |
SNPdbe | rs52826764 |
MSV3d | rs52826764 |
GWAS Ctlg | rs52826764 |
Max Magnitude | 0 |
[PMID 28146470] Rare and low-frequency coding variants alter human adult height.
ClinVar | |
---|---|
Risk | rs52826764(A;A) |
Alt | rs52826764(A;A) |
Reference | Rs52826764(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Multiple Epiphyseal Dysplasia |
Variation | info |
Gene | MATN3 |
CLNDBN | not specified Multiple Epiphyseal Dysplasia, Dominant |
Reversed | 1 |
HGVS | NC_000002.11:g.20205541C>T |
CLNSRC | |
CLNACC | RCV000242199.1, RCV000286603.1, |