rs778862698
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs778862698(A;G) |
Make rs778862698(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 136872196 |
Gene | PEX7 |
is a | snp |
is | mentioned by |
dbSNP | rs778862698 |
dbSNP (classic) | rs778862698 |
ClinGen | rs778862698 |
ebi | rs778862698 |
HLI | rs778862698 |
Exac | rs778862698 |
Gnomad | rs778862698 |
Varsome | rs778862698 |
LitVar | rs778862698 |
Map | rs778862698 |
PheGenI | rs778862698 |
Biobank | rs778862698 |
1000 genomes | rs778862698 |
hgdp | rs778862698 |
ensembl | rs778862698 |
geneview | rs778862698 |
scholar | rs778862698 |
rs778862698 | |
pharmgkb | rs778862698 |
gwascentral | rs778862698 |
openSNP | rs778862698 |
23andMe | rs778862698 |
SNPshot | rs778862698 |
SNPdbe | rs778862698 |
MSV3d | rs778862698 |
GWAS Ctlg | rs778862698 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778862698(G;G) rs778862698(T;T) |
Alt | rs778862698(G;G) rs778862698(T;T) |
Reference | Rs778862698(A;A) |
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.137193334A>G |
CLNSRC | |
CLNACC | RCV000409011.1, |