rs138943405
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138943405(A;A) |
Make rs138943405(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 160042457 |
Gene | KCNJ10 |
is a | snp |
is | mentioned by |
dbSNP | rs138943405 |
dbSNP (classic) | rs138943405 |
ClinGen | rs138943405 |
ebi | rs138943405 |
HLI | rs138943405 |
Exac | rs138943405 |
Gnomad | rs138943405 |
Varsome | rs138943405 |
LitVar | rs138943405 |
Map | rs138943405 |
PheGenI | rs138943405 |
Biobank | rs138943405 |
1000 genomes | rs138943405 |
hgdp | rs138943405 |
ensembl | rs138943405 |
geneview | rs138943405 |
scholar | rs138943405 |
rs138943405 | |
pharmgkb | rs138943405 |
gwascentral | rs138943405 |
openSNP | rs138943405 |
23andMe | rs138943405 |
SNPshot | rs138943405 |
SNPdbe | rs138943405 |
MSV3d | rs138943405 |
GWAS Ctlg | rs138943405 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138943405(A;A) |
Alt | rs138943405(A;A) |
Reference | Rs138943405(G;G) |
Significance | Probable-Pathogenic |
Disease | SeSAME syndrome KCNJ10-Related Disorders |
Variation | info |
Gene | KCNJ10 |
CLNDBN | SeSAME syndrome KCNJ10-Related Disorders |
Reversed | 0 |
HGVS | NC_000001.10:g.160012247G>A |
CLNSRC | |
CLNACC | RCV000193637.1, RCV000319701.1, |