rs755221106
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755221106(G;T) |
Make rs755221106(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 50617560 |
Gene | CACNA1G |
is a | snp |
is | mentioned by |
dbSNP | rs755221106 |
dbSNP (classic) | rs755221106 |
ClinGen | rs755221106 |
ebi | rs755221106 |
HLI | rs755221106 |
Exac | rs755221106 |
Gnomad | rs755221106 |
Varsome | rs755221106 |
LitVar | rs755221106 |
Map | rs755221106 |
PheGenI | rs755221106 |
Biobank | rs755221106 |
1000 genomes | rs755221106 |
hgdp | rs755221106 |
ensembl | rs755221106 |
geneview | rs755221106 |
scholar | rs755221106 |
rs755221106 | |
pharmgkb | rs755221106 |
gwascentral | rs755221106 |
openSNP | rs755221106 |
23andMe | rs755221106 |
SNPshot | rs755221106 |
SNPdbe | rs755221106 |
MSV3d | rs755221106 |
GWAS Ctlg | rs755221106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755221106(A;A) rs755221106(T;T) |
Alt | rs755221106(A;A) rs755221106(T;T) |
Reference | Rs755221106(G;G) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 42 |
Variation | info |
Gene | CACNA1G |
CLNDBN | Spinocerebellar ataxia 42 |
Reversed | 0 |
HGVS | NC_000017.10:g.48694921G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207440.1, |