rs312262898
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs312262898(-;GAC) |
Make rs312262898(GAC;GAC) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 18786034 |
Gene | COMP |
is a | snp |
is | mentioned by |
dbSNP | rs312262898 |
dbSNP (classic) | rs312262898 |
ClinGen | rs312262898 |
ebi | rs312262898 |
HLI | rs312262898 |
Exac | rs312262898 |
Gnomad | rs312262898 |
Varsome | rs312262898 |
LitVar | rs312262898 |
Map | rs312262898 |
PheGenI | rs312262898 |
Biobank | rs312262898 |
1000 genomes | rs312262898 |
hgdp | rs312262898 |
ensembl | rs312262898 |
geneview | rs312262898 |
scholar | rs312262898 |
rs312262898 | |
pharmgkb | rs312262898 |
gwascentral | rs312262898 |
openSNP | rs312262898 |
23andMe | rs312262898 |
SNPshot | rs312262898 |
SNPdbe | rs312262898 |
MSV3d | rs312262898 |
GWAS Ctlg | rs312262898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs312262898(GAC;GAC) |
Alt | rs312262898(GAC;GAC) |
Reference | Rs312262898(-;-) |
Significance | Pathogenic |
Disease | Multiple epiphyseal dysplasia 1 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
Variation | info |
Gene | COMP |
CLNDBN | Multiple epiphyseal dysplasia 1 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.18896845_18896847dupGTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009771.2, RCV000033881.1, |