rs387906654
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.6 | Idiopathic basal ganglia calcification 1 |
Make rs387906654(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 42428768 |
Gene | SLC20A2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906654 |
dbSNP (classic) | rs387906654 |
ClinGen | rs387906654 |
ebi | rs387906654 |
HLI | rs387906654 |
Exac | rs387906654 |
Gnomad | rs387906654 |
Varsome | rs387906654 |
LitVar | rs387906654 |
Map | rs387906654 |
PheGenI | rs387906654 |
Biobank | rs387906654 |
1000 genomes | rs387906654 |
hgdp | rs387906654 |
ensembl | rs387906654 |
geneview | rs387906654 |
scholar | rs387906654 |
rs387906654 | |
pharmgkb | rs387906654 |
gwascentral | rs387906654 |
openSNP | rs387906654 |
23andMe | rs387906654 |
SNPshot | rs387906654 |
SNPdbe | rs387906654 |
MSV3d | rs387906654 |
GWAS Ctlg | rs387906654 |
Max Magnitude | 6.6 |
aka c.1784C>T (p.Thr595Met)
see also OMIM 158378.0005
ClinVar | |
---|---|
Risk | rs387906654(T;T) |
Alt | rs387906654(T;T) |
Reference | Rs387906654(C;C) |
Significance | Pathogenic |
Disease | Idiopathic basal ganglia calcification 1 |
Variation | info |
Gene | SLC20A2 |
CLNDBN | Idiopathic basal ganglia calcification 1 |
Reversed | 1 |
HGVS | NC_000008.10:g.42286286G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022666.26, |