rs185212943
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs185212943(C;C) |
Make rs185212943(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 128839982 |
Gene | KCNJ1 |
is a | snp |
is | mentioned by |
dbSNP | rs185212943 |
dbSNP (classic) | rs185212943 |
ClinGen | rs185212943 |
ebi | rs185212943 |
HLI | rs185212943 |
Exac | rs185212943 |
Gnomad | rs185212943 |
Varsome | rs185212943 |
LitVar | rs185212943 |
Map | rs185212943 |
PheGenI | rs185212943 |
Biobank | rs185212943 |
1000 genomes | rs185212943 |
hgdp | rs185212943 |
ensembl | rs185212943 |
geneview | rs185212943 |
scholar | rs185212943 |
rs185212943 | |
pharmgkb | rs185212943 |
gwascentral | rs185212943 |
openSNP | rs185212943 |
23andMe | rs185212943 |
SNPshot | rs185212943 |
SNPdbe | rs185212943 |
MSV3d | rs185212943 |
GWAS Ctlg | rs185212943 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs185212943(A;A) rs185212943(C;C) |
Alt | rs185212943(A;A) rs185212943(C;C) |
Reference | Rs185212943(T;T) |
Significance | Pathogenic |
Disease | Bartter syndrome not provided Antenatal Bartter Syndrome |
Variation | info |
Gene | KCNJ1 |
CLNDBN | Bartter syndrome, type 2, antenatal not provided Antenatal Bartter Syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.128709877T>A; NC_000011.9:g.128709877T>C |
CLNSRC | |
CLNACC | RCV000414946.1, RCV000054579.1, RCV000356282.1, |