rs886041035
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 17 |
Position | 5000848 |
Gene | KIF1C |
is a | snp |
is | mentioned by |
dbSNP | rs886041035 |
dbSNP (classic) | rs886041035 |
ClinGen | rs886041035 |
ebi | rs886041035 |
HLI | rs886041035 |
Exac | rs886041035 |
Gnomad | rs886041035 |
Varsome | rs886041035 |
LitVar | rs886041035 |
Map | rs886041035 |
PheGenI | rs886041035 |
Biobank | rs886041035 |
1000 genomes | rs886041035 |
hgdp | rs886041035 |
ensembl | rs886041035 |
geneview | rs886041035 |
scholar | rs886041035 |
rs886041035 | |
pharmgkb | rs886041035 |
gwascentral | rs886041035 |
openSNP | rs886041035 |
23andMe | rs886041035 |
SNPshot | rs886041035 |
SNPdbe | rs886041035 |
MSV3d | rs886041035 |
GWAS Ctlg | rs886041035 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041035(A;A) |
Alt | rs886041035(A;A) |
Reference | Rs886041035(G;G) |
Significance | Pathogenic |
Disease | Ataxia |
Variation | info |
Gene | KIF1C |
CLNDBN | Ataxia, spastic, 2, autosomal recessive |
Reversed | 0 |
HGVS | NC_000017.10:g.4904143G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087325.3, |