rs515726215
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 6 | ACCPN neurological disorder |
(-;C) | 3 | carrier of an ACCPN neurological mutation |
(C;C) | 0 | common/normal |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 34240661 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs515726215 |
dbSNP (classic) | rs515726215 |
ClinGen | rs515726215 |
ebi | rs515726215 |
HLI | rs515726215 |
Exac | rs515726215 |
Gnomad | rs515726215 |
Varsome | rs515726215 |
LitVar | rs515726215 |
Map | rs515726215 |
PheGenI | rs515726215 |
Biobank | rs515726215 |
1000 genomes | rs515726215 |
hgdp | rs515726215 |
ensembl | rs515726215 |
geneview | rs515726215 |
scholar | rs515726215 |
rs515726215 | |
pharmgkb | rs515726215 |
gwascentral | rs515726215 |
openSNP | rs515726215 |
23andMe | rs515726215 |
SNPshot | rs515726215 |
SNPdbe | rs515726215 |
MSV3d | rs515726215 |
GWAS Ctlg | rs515726215 |
Max Magnitude | 6 |
Agenesis of the Corpus Callosum with Peripheral Neuropathy
23andMe name: i5012573
ClinVar | |
---|---|
Risk | Rs515726215(-;-) |
Alt | Rs515726215(-;-) |
Reference | Rs515726215(C;C) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.34532862delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005650.5, |