rs61753245
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61753245(A;A) |
Make rs61753245(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 136866718 |
Gene | PEX7 |
is a | snp |
is | mentioned by |
dbSNP | rs61753245 |
dbSNP (classic) | rs61753245 |
ClinGen | rs61753245 |
ebi | rs61753245 |
HLI | rs61753245 |
Exac | rs61753245 |
Gnomad | rs61753245 |
Varsome | rs61753245 |
LitVar | rs61753245 |
Map | rs61753245 |
PheGenI | rs61753245 |
Biobank | rs61753245 |
1000 genomes | rs61753245 |
hgdp | rs61753245 |
ensembl | rs61753245 |
geneview | rs61753245 |
scholar | rs61753245 |
rs61753245 | |
pharmgkb | rs61753245 |
gwascentral | rs61753245 |
openSNP | rs61753245 |
23andMe | rs61753245 |
SNPshot | rs61753245 |
SNPdbe | rs61753245 |
MSV3d | rs61753245 |
GWAS Ctlg | rs61753245 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753245(A;A) |
Alt | rs61753245(A;A) |
Reference | Rs61753245(G;G) |
Significance | Probable-Pathogenic |
Disease | Rhizomelic chondrodysplasia punctata type 1 |
Variation | info |
Gene | PEX7 |
CLNDBN | Rhizomelic chondrodysplasia punctata type 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.137187856G>A |
CLNSRC | |
CLNACC | RCV000169479.1, |