rs387906834
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906834(C;T) |
Make rs387906834(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 160042340 |
Gene | KCNJ10 |
is a | snp |
is | mentioned by |
dbSNP | rs387906834 |
dbSNP (classic) | rs387906834 |
ClinGen | rs387906834 |
ebi | rs387906834 |
HLI | rs387906834 |
Exac | rs387906834 |
Gnomad | rs387906834 |
Varsome | rs387906834 |
LitVar | rs387906834 |
Map | rs387906834 |
PheGenI | rs387906834 |
Biobank | rs387906834 |
1000 genomes | rs387906834 |
hgdp | rs387906834 |
ensembl | rs387906834 |
geneview | rs387906834 |
scholar | rs387906834 |
rs387906834 | |
pharmgkb | rs387906834 |
gwascentral | rs387906834 |
openSNP | rs387906834 |
23andMe | rs387906834 |
SNPshot | rs387906834 |
SNPdbe | rs387906834 |
MSV3d | rs387906834 |
GWAS Ctlg | rs387906834 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906834(T;T) |
Alt | rs387906834(T;T) |
Reference | Rs387906834(C;C) |
Significance | Pathogenic |
Disease | SeSAME syndrome |
Variation | info |
Gene | KCNJ10 |
CLNDBN | SeSAME syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.160012130G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023175.2, |