rs775835429
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs775835429(-;TC) |
Make rs775835429(TC;TC) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 227702236 |
Gene | SLC19A3 |
is a | snp |
is | mentioned by |
dbSNP | rs775835429 |
dbSNP (classic) | rs775835429 |
ClinGen | rs775835429 |
ebi | rs775835429 |
HLI | rs775835429 |
Exac | rs775835429 |
Gnomad | rs775835429 |
Varsome | rs775835429 |
LitVar | rs775835429 |
Map | rs775835429 |
PheGenI | rs775835429 |
Biobank | rs775835429 |
1000 genomes | rs775835429 |
hgdp | rs775835429 |
ensembl | rs775835429 |
geneview | rs775835429 |
scholar | rs775835429 |
rs775835429 | |
pharmgkb | rs775835429 |
gwascentral | rs775835429 |
openSNP | rs775835429 |
23andMe | rs775835429 |
SNPshot | rs775835429 |
SNPdbe | rs775835429 |
MSV3d | rs775835429 |
GWAS Ctlg | rs775835429 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775835429(TC;TC) |
Alt | rs775835429(TC;TC) |
Reference | Rs775835429(-;-) |
Significance | Pathogenic |
Disease | Basal ganglia disease |
Variation | info |
Gene | SLC19A3 |
CLNDBN | Basal ganglia disease, biotin-responsive |
Reversed | 0 |
HGVS | NC_000002.11:g.228566953_228566954dupTC |
CLNSRC | |
CLNACC | RCV000408606.2, |