rs142339351
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs142339351(C;T) |
Make rs142339351(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 121903030 |
Gene | TRPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs142339351 |
dbSNP (classic) | rs142339351 |
ClinGen | rs142339351 |
ebi | rs142339351 |
HLI | rs142339351 |
Exac | rs142339351 |
Gnomad | rs142339351 |
Varsome | rs142339351 |
LitVar | rs142339351 |
Map | rs142339351 |
PheGenI | rs142339351 |
Biobank | rs142339351 |
1000 genomes | rs142339351 |
hgdp | rs142339351 |
ensembl | rs142339351 |
geneview | rs142339351 |
scholar | rs142339351 |
rs142339351 | |
pharmgkb | rs142339351 |
gwascentral | rs142339351 |
openSNP | rs142339351 |
23andMe | rs142339351 |
SNPshot | rs142339351 |
SNPdbe | rs142339351 |
MSV3d | rs142339351 |
GWAS Ctlg | rs142339351 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142339351(T;T) |
Alt | rs142339351(T;T) |
Reference | Rs142339351(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 41 |
Variation | info |
Gene | TRPC3 |
CLNDBN | Spinocerebellar ataxia 41 |
Reversed | 0 |
HGVS | NC_000004.11:g.122824185C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172856.2, |