rs146457619
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs146457619(A;G) |
Make rs146457619(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 7 |
Position | 143339304 |
Gene | CLCN1 |
is a | snp |
is | mentioned by |
dbSNP | rs146457619 |
dbSNP (classic) | rs146457619 |
ClinGen | rs146457619 |
ebi | rs146457619 |
HLI | rs146457619 |
Exac | rs146457619 |
Gnomad | rs146457619 |
Varsome | rs146457619 |
LitVar | rs146457619 |
Map | rs146457619 |
PheGenI | rs146457619 |
Biobank | rs146457619 |
1000 genomes | rs146457619 |
hgdp | rs146457619 |
ensembl | rs146457619 |
geneview | rs146457619 |
scholar | rs146457619 |
rs146457619 | |
pharmgkb | rs146457619 |
gwascentral | rs146457619 |
openSNP | rs146457619 |
23andMe | rs146457619 |
SNPshot | rs146457619 |
SNPdbe | rs146457619 |
MSV3d | rs146457619 |
GWAS Ctlg | rs146457619 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146457619(G;G) |
Alt | rs146457619(G;G) |
Reference | Rs146457619(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CLCN1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.143036397A>G |
CLNSRC | |
CLNACC | RCV000342021.1, |