rs398122396
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TCCC) | 6.6 | Idiopathic basal ganglia calcification 1 |
(TCCC;TCCC) | 0 | common in clinvar |
Make rs398122396(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 42417931 |
Gene | SLC20A2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122396 |
dbSNP (classic) | rs398122396 |
ClinGen | rs398122396 |
ebi | rs398122396 |
HLI | rs398122396 |
Exac | rs398122396 |
Gnomad | rs398122396 |
Varsome | rs398122396 |
LitVar | rs398122396 |
Map | rs398122396 |
PheGenI | rs398122396 |
Biobank | rs398122396 |
1000 genomes | rs398122396 |
hgdp | rs398122396 |
ensembl | rs398122396 |
geneview | rs398122396 |
scholar | rs398122396 |
rs398122396 | |
pharmgkb | rs398122396 |
gwascentral | rs398122396 |
openSNP | rs398122396 |
23andMe | rs398122396 |
SNPshot | rs398122396 |
SNPdbe | rs398122396 |
MSV3d | rs398122396 |
GWAS Ctlg | rs398122396 |
Max Magnitude | 6.6 |
aka c.1828_1831del (p.Ser610fs)
see also OMIM 158378.0007
ClinVar | |
---|---|
Risk | rs398122396(-;-) |
Alt | rs398122396(-;-) |
Reference | Rs398122396(TCCC;TCCC) |
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.42275449_42275452delGGGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000066206.26, |