rs375380880
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs375380880(C;T) |
Make rs375380880(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 110198158 |
Gene | SLC6A17 |
is a | snp |
is | mentioned by |
dbSNP | rs375380880 |
dbSNP (classic) | rs375380880 |
ClinGen | rs375380880 |
ebi | rs375380880 |
HLI | rs375380880 |
Exac | rs375380880 |
Gnomad | rs375380880 |
Varsome | rs375380880 |
LitVar | rs375380880 |
Map | rs375380880 |
PheGenI | rs375380880 |
Biobank | rs375380880 |
1000 genomes | rs375380880 |
hgdp | rs375380880 |
ensembl | rs375380880 |
geneview | rs375380880 |
scholar | rs375380880 |
rs375380880 | |
pharmgkb | rs375380880 |
gwascentral | rs375380880 |
openSNP | rs375380880 |
23andMe | rs375380880 |
SNPshot | rs375380880 |
SNPdbe | rs375380880 |
MSV3d | rs375380880 |
GWAS Ctlg | rs375380880 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375380880(G;G) rs375380880(T;T) |
Alt | rs375380880(G;G) rs375380880(T;T) |
Reference | Rs375380880(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | SLC6A17 LOC101928619 |
CLNDBN | Mental retardation, autosomal recessive 48 |
Reversed | 0 |
HGVS | NC_000001.10:g.110740780C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000167527.3, |