rs515726218
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGAGGGAA;AGAGGGAA) | 0 | common in clinvar |
Make rs515726218(-;-) |
Make rs515726218(-;AGAGGGAA) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 34250906 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs515726218 |
dbSNP (classic) | rs515726218 |
ClinGen | rs515726218 |
ebi | rs515726218 |
HLI | rs515726218 |
Exac | rs515726218 |
Gnomad | rs515726218 |
Varsome | rs515726218 |
LitVar | rs515726218 |
Map | rs515726218 |
PheGenI | rs515726218 |
Biobank | rs515726218 |
1000 genomes | rs515726218 |
hgdp | rs515726218 |
ensembl | rs515726218 |
geneview | rs515726218 |
scholar | rs515726218 |
rs515726218 | |
pharmgkb | rs515726218 |
gwascentral | rs515726218 |
openSNP | rs515726218 |
23andMe | rs515726218 |
SNPshot | rs515726218 |
SNPdbe | rs515726218 |
MSV3d | rs515726218 |
GWAS Ctlg | rs515726218 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726218(-;-) |
Alt | rs515726218(-;-) |
Reference | Rs515726218(AGAGGGAA;AGAGGGAA) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.34543107_34543114delAGAGGGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000123394.3, |