rs148934699
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs148934699(C;T) |
Make rs148934699(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 5022180 |
Gene | KIF1C |
is a | snp |
is | mentioned by |
dbSNP | rs148934699 |
dbSNP (classic) | rs148934699 |
ClinGen | rs148934699 |
ebi | rs148934699 |
HLI | rs148934699 |
Exac | rs148934699 |
Gnomad | rs148934699 |
Varsome | rs148934699 |
LitVar | rs148934699 |
Map | rs148934699 |
PheGenI | rs148934699 |
Biobank | rs148934699 |
1000 genomes | rs148934699 |
hgdp | rs148934699 |
ensembl | rs148934699 |
geneview | rs148934699 |
scholar | rs148934699 |
rs148934699 | |
pharmgkb | rs148934699 |
gwascentral | rs148934699 |
openSNP | rs148934699 |
23andMe | rs148934699 |
SNPshot | rs148934699 |
SNPdbe | rs148934699 |
MSV3d | rs148934699 |
GWAS Ctlg | rs148934699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148934699(T;T) |
Alt | rs148934699(T;T) |
Reference | Rs148934699(C;C) |
Significance | Probable-Pathogenic |
Disease | Ataxia not provided not specified |
Variation | info |
Gene | KIF1C |
CLNDBN | Ataxia, spastic, 2, autosomal recessive not provided not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.4925475C>T |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191099.1, RCV000415815.1, RCV000494416.1, |