rs774515747
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs774515747(A;G) |
Make rs774515747(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 48226575 |
Gene | LOC105370807, SLC12A1 |
is a | snp |
is | mentioned by |
dbSNP | rs774515747 |
dbSNP (classic) | rs774515747 |
ClinGen | rs774515747 |
ebi | rs774515747 |
HLI | rs774515747 |
Exac | rs774515747 |
Gnomad | rs774515747 |
Varsome | rs774515747 |
LitVar | rs774515747 |
Map | rs774515747 |
PheGenI | rs774515747 |
Biobank | rs774515747 |
1000 genomes | rs774515747 |
hgdp | rs774515747 |
ensembl | rs774515747 |
geneview | rs774515747 |
scholar | rs774515747 |
rs774515747 | |
pharmgkb | rs774515747 |
gwascentral | rs774515747 |
openSNP | rs774515747 |
23andMe | rs774515747 |
SNPshot | rs774515747 |
SNPdbe | rs774515747 |
MSV3d | rs774515747 |
GWAS Ctlg | rs774515747 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774515747(G;G) rs774515747(T;T) |
Alt | rs774515747(G;G) rs774515747(T;T) |
Reference | Rs774515747(A;A) |
Significance | Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | SLC12A1 |
CLNDBN | Bartter syndrome, type 1, antenatal |
Reversed | 0 |
HGVS | NC_000015.9:g.48518772A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009298.4, |