rs121917884
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121917884(A;G) |
Make rs121917884(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 227688216 |
Gene | SLC19A3 |
is a | snp |
is | mentioned by |
dbSNP | rs121917884 |
dbSNP (classic) | rs121917884 |
ClinGen | rs121917884 |
ebi | rs121917884 |
HLI | rs121917884 |
Exac | rs121917884 |
Gnomad | rs121917884 |
Varsome | rs121917884 |
LitVar | rs121917884 |
Map | rs121917884 |
PheGenI | rs121917884 |
Biobank | rs121917884 |
1000 genomes | rs121917884 |
hgdp | rs121917884 |
ensembl | rs121917884 |
geneview | rs121917884 |
scholar | rs121917884 |
rs121917884 | |
pharmgkb | rs121917884 |
gwascentral | rs121917884 |
openSNP | rs121917884 |
23andMe | rs121917884 |
SNPshot | rs121917884 |
SNPdbe | rs121917884 |
MSV3d | rs121917884 |
GWAS Ctlg | rs121917884 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917884(G;G) |
Alt | rs121917884(G;G) |
Reference | Rs121917884(A;A) |
Significance | Pathogenic |
Disease | Basal ganglia disease not provided |
Variation | info |
Gene | SLC19A3 |
CLNDBN | Basal ganglia disease, biotin-responsive not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.228552932T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004825.2, RCV000489300.1, |