rs61753236
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61753236(C;T) |
Make rs61753236(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 136822739 |
Gene | PEX7 |
is a | snp |
is | mentioned by |
dbSNP | rs61753236 |
dbSNP (classic) | rs61753236 |
ClinGen | rs61753236 |
ebi | rs61753236 |
HLI | rs61753236 |
Exac | rs61753236 |
Gnomad | rs61753236 |
Varsome | rs61753236 |
LitVar | rs61753236 |
Map | rs61753236 |
PheGenI | rs61753236 |
Biobank | rs61753236 |
1000 genomes | rs61753236 |
hgdp | rs61753236 |
ensembl | rs61753236 |
geneview | rs61753236 |
scholar | rs61753236 |
rs61753236 | |
pharmgkb | rs61753236 |
gwascentral | rs61753236 |
openSNP | rs61753236 |
23andMe | rs61753236 |
SNPshot | rs61753236 |
SNPdbe | rs61753236 |
MSV3d | rs61753236 |
GWAS Ctlg | rs61753236 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753236(T;T) |
Alt | rs61753236(T;T) |
Reference | Rs61753236(C;C) |
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.137143877C>T |
CLNSRC | |
CLNACC | RCV000169280.1, |