rs515726217
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs515726217(-;A) |
Make rs515726217(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 34243984 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs515726217 |
dbSNP (classic) | rs515726217 |
ClinGen | rs515726217 |
ebi | rs515726217 |
HLI | rs515726217 |
Exac | rs515726217 |
Gnomad | rs515726217 |
Varsome | rs515726217 |
LitVar | rs515726217 |
Map | rs515726217 |
PheGenI | rs515726217 |
Biobank | rs515726217 |
1000 genomes | rs515726217 |
hgdp | rs515726217 |
ensembl | rs515726217 |
geneview | rs515726217 |
scholar | rs515726217 |
rs515726217 | |
pharmgkb | rs515726217 |
gwascentral | rs515726217 |
openSNP | rs515726217 |
23andMe | rs515726217 |
SNPshot | rs515726217 |
SNPdbe | rs515726217 |
MSV3d | rs515726217 |
GWAS Ctlg | rs515726217 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726217(A;A) |
Alt | rs515726217(A;A) |
Reference | Rs515726217(-;-) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.34536185dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000123393.3, |