rs121909137
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909137(C;C) |
Make rs121909137(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 16024773 |
Gene | CLCNKA |
is a | snp |
is | mentioned by |
dbSNP | rs121909137 |
dbSNP (classic) | rs121909137 |
ClinGen | rs121909137 |
ebi | rs121909137 |
HLI | rs121909137 |
Exac | rs121909137 |
Gnomad | rs121909137 |
Varsome | rs121909137 |
LitVar | rs121909137 |
Map | rs121909137 |
PheGenI | rs121909137 |
Biobank | rs121909137 |
1000 genomes | rs121909137 |
hgdp | rs121909137 |
ensembl | rs121909137 |
geneview | rs121909137 |
scholar | rs121909137 |
rs121909137 | |
pharmgkb | rs121909137 |
gwascentral | rs121909137 |
openSNP | rs121909137 |
23andMe | rs121909137 |
SNPshot | rs121909137 |
SNPdbe | rs121909137 |
MSV3d | rs121909137 |
GWAS Ctlg | rs121909137 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909137(C;C) |
Alt | rs121909137(C;C) |
Reference | Rs121909137(G;G) |
Significance | Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | CLCNKA |
CLNDBN | Bartter syndrome, type 4b |
Reversed | 0 |
HGVS | NC_000001.10:g.16351268G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008027.3, |