rs138008832
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138008832(G;T) |
Make rs138008832(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 150123142 |
Gene | PDGFRB |
is a | snp |
is | mentioned by |
dbSNP | rs138008832 |
dbSNP (classic) | rs138008832 |
ClinGen | rs138008832 |
ebi | rs138008832 |
HLI | rs138008832 |
Exac | rs138008832 |
Gnomad | rs138008832 |
Varsome | rs138008832 |
LitVar | rs138008832 |
Map | rs138008832 |
PheGenI | rs138008832 |
Biobank | rs138008832 |
1000 genomes | rs138008832 |
hgdp | rs138008832 |
ensembl | rs138008832 |
geneview | rs138008832 |
scholar | rs138008832 |
rs138008832 | |
pharmgkb | rs138008832 |
gwascentral | rs138008832 |
openSNP | rs138008832 |
23andMe | rs138008832 |
SNPshot | rs138008832 |
SNPdbe | rs138008832 |
MSV3d | rs138008832 |
GWAS Ctlg | rs138008832 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138008832(A;A) rs138008832(T;T) |
Alt | rs138008832(A;A) rs138008832(T;T) |
Reference | Rs138008832(G;G) |
Significance | Probable-Pathogenic |
Disease | Basal ganglia calcification |
Variation | info |
Gene | PDGFRB |
CLNDBN | Basal ganglia calcification, idiopathic, 4 |
Reversed | 0 |
HGVS | NC_000005.9:g.149502705G>A |
CLNSRC | VariO |
CLNACC | RCV000128554.2, |