rs202232792
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202232792(C;T) |
Make rs202232792(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 5023573 |
Gene | KIF1C |
is a | snp |
is | mentioned by |
dbSNP | rs202232792 |
dbSNP (classic) | rs202232792 |
ClinGen | rs202232792 |
ebi | rs202232792 |
HLI | rs202232792 |
Exac | rs202232792 |
Gnomad | rs202232792 |
Varsome | rs202232792 |
LitVar | rs202232792 |
Map | rs202232792 |
PheGenI | rs202232792 |
Biobank | rs202232792 |
1000 genomes | rs202232792 |
hgdp | rs202232792 |
ensembl | rs202232792 |
geneview | rs202232792 |
scholar | rs202232792 |
rs202232792 | |
pharmgkb | rs202232792 |
gwascentral | rs202232792 |
openSNP | rs202232792 |
23andMe | rs202232792 |
SNPshot | rs202232792 |
SNPdbe | rs202232792 |
MSV3d | rs202232792 |
GWAS Ctlg | rs202232792 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202232792(T;T) |
Alt | rs202232792(T;T) |
Reference | Rs202232792(C;C) |
Significance | Probable-Pathogenic |
Disease | Ataxia not specified |
Variation | info |
Gene | KIF1C |
CLNDBN | Ataxia, spastic, 2, autosomal recessive not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.4926868C>T |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191100.1, RCV000479931.1, |