rs121909131
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909131(C;T) |
Make rs121909131(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 16047917 |
Gene | CLCNKB |
is a | snp |
is | mentioned by |
dbSNP | rs121909131 |
dbSNP (classic) | rs121909131 |
ClinGen | rs121909131 |
ebi | rs121909131 |
HLI | rs121909131 |
Exac | rs121909131 |
Gnomad | rs121909131 |
Varsome | rs121909131 |
LitVar | rs121909131 |
Map | rs121909131 |
PheGenI | rs121909131 |
Biobank | rs121909131 |
1000 genomes | rs121909131 |
hgdp | rs121909131 |
ensembl | rs121909131 |
geneview | rs121909131 |
scholar | rs121909131 |
rs121909131 | |
pharmgkb | rs121909131 |
gwascentral | rs121909131 |
openSNP | rs121909131 |
23andMe | rs121909131 |
SNPshot | rs121909131 |
SNPdbe | rs121909131 |
MSV3d | rs121909131 |
GWAS Ctlg | rs121909131 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909131(T;T) |
Alt | rs121909131(T;T) |
Reference | Rs121909131(C;C) |
Significance | Pathogenic |
Disease | Bartter syndrome type 3 |
Variation | info |
Gene | CLCNKB |
CLNDBN | Bartter syndrome type 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.16374412C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008029.3, |