rs62653611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs62653611(A;G) |
Make rs62653611(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 136898192 |
Gene | PEX7 |
is a | snp |
is | mentioned by |
dbSNP | rs62653611 |
dbSNP (classic) | rs62653611 |
ClinGen | rs62653611 |
ebi | rs62653611 |
HLI | rs62653611 |
Exac | rs62653611 |
Gnomad | rs62653611 |
Varsome | rs62653611 |
LitVar | rs62653611 |
Map | rs62653611 |
PheGenI | rs62653611 |
Biobank | rs62653611 |
1000 genomes | rs62653611 |
hgdp | rs62653611 |
ensembl | rs62653611 |
geneview | rs62653611 |
scholar | rs62653611 |
rs62653611 | |
pharmgkb | rs62653611 |
gwascentral | rs62653611 |
openSNP | rs62653611 |
23andMe | rs62653611 |
SNPshot | rs62653611 |
SNPdbe | rs62653611 |
MSV3d | rs62653611 |
GWAS Ctlg | rs62653611 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62653611(G;G) |
Alt | rs62653611(G;G) |
Reference | Rs62653611(A;A) |
Significance | Pathogenic |
Disease | Rhizomelic chondrodysplasia punctata type 1 |
Variation | info |
Gene | PEX7 |
CLNDBN | Rhizomelic chondrodysplasia punctata type 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.137219330A>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032118.1, |