rs786204794
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCA;CCA) | 0 | common in clinvar |
Make rs786204794(-;-) |
Make rs786204794(-;CCA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 21 |
Position | 37714700 |
Gene | KCNJ6, LOC105372799, LOC107985507 |
is a | snp |
is | mentioned by |
dbSNP | rs786204794 |
dbSNP (classic) | rs786204794 |
ClinGen | rs786204794 |
ebi | rs786204794 |
HLI | rs786204794 |
Exac | rs786204794 |
Gnomad | rs786204794 |
Varsome | rs786204794 |
LitVar | rs786204794 |
Map | rs786204794 |
PheGenI | rs786204794 |
Biobank | rs786204794 |
1000 genomes | rs786204794 |
hgdp | rs786204794 |
ensembl | rs786204794 |
geneview | rs786204794 |
scholar | rs786204794 |
rs786204794 | |
pharmgkb | rs786204794 |
gwascentral | rs786204794 |
openSNP | rs786204794 |
23andMe | rs786204794 |
SNPshot | rs786204794 |
SNPdbe | rs786204794 |
MSV3d | rs786204794 |
GWAS Ctlg | rs786204794 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204794(-;-) |
Alt | rs786204794(-;-) |
Reference | Rs786204794(CCA;CCA) |
Significance | Pathogenic |
Disease | Keppen-Lubinsky syndrome |
Variation | info |
Gene | KCNJ6 |
CLNDBN | Keppen-Lubinsky syndrome |
Reversed | 1 |
HGVS | NC_000021.8:g.39087003_39087005delTGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169688.3, |