rs1060499537
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060499537(A;A) |
Make rs1060499537(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 196429676 |
Gene | KCNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499537 |
dbSNP (classic) | rs1060499537 |
ClinGen | rs1060499537 |
ebi | rs1060499537 |
HLI | rs1060499537 |
Exac | rs1060499537 |
Gnomad | rs1060499537 |
Varsome | rs1060499537 |
LitVar | rs1060499537 |
Map | rs1060499537 |
PheGenI | rs1060499537 |
Biobank | rs1060499537 |
1000 genomes | rs1060499537 |
hgdp | rs1060499537 |
ensembl | rs1060499537 |
geneview | rs1060499537 |
scholar | rs1060499537 |
rs1060499537 | |
pharmgkb | rs1060499537 |
gwascentral | rs1060499537 |
openSNP | rs1060499537 |
23andMe | rs1060499537 |
SNPshot | rs1060499537 |
SNPdbe | rs1060499537 |
MSV3d | rs1060499537 |
GWAS Ctlg | rs1060499537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499537(A;A) |
Alt | rs1060499537(A;A) |
Reference | Rs1060499537(T;T) |
Significance | Pathogenic |
Disease | KCNT2-related condition |
Variation | info |
Gene | KCNT2 |
CLNDBN | KCNT2-related condition |
Reversed | 1 |
HGVS | NC_000001.10:g.196398806A>T |
CLNSRC | |
CLNACC | RCV000477662.1, |