rs796065036
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796065036(-;T) |
Make rs796065036(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 35657823 |
Gene | CCDC107, RMRP |
is a | snp |
is | mentioned by |
dbSNP | rs796065036 |
dbSNP (classic) | rs796065036 |
ClinGen | rs796065036 |
ebi | rs796065036 |
HLI | rs796065036 |
Exac | rs796065036 |
Gnomad | rs796065036 |
Varsome | rs796065036 |
LitVar | rs796065036 |
Map | rs796065036 |
PheGenI | rs796065036 |
Biobank | rs796065036 |
1000 genomes | rs796065036 |
hgdp | rs796065036 |
ensembl | rs796065036 |
geneview | rs796065036 |
scholar | rs796065036 |
rs796065036 | |
pharmgkb | rs796065036 |
gwascentral | rs796065036 |
openSNP | rs796065036 |
23andMe | rs796065036 |
SNPshot | rs796065036 |
SNPdbe | rs796065036 |
MSV3d | rs796065036 |
GWAS Ctlg | rs796065036 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065036(T;T) |
Alt | rs796065036(T;T) |
Reference | Rs796065036(-;-) |
Significance | Pathogenic |
Disease | Metaphyseal chondrodysplasia |
Variation | info |
Gene | CCDC107 RMRP |
CLNDBN | Metaphyseal chondrodysplasia, McKusick type |
Reversed | 1 |
HGVS | NC_000009.11:g.35657821dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015291.25, |