rs61761068
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61761068(C;T) |
Make rs61761068(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 8887116 |
Gene | PIK3R5 |
is a | snp |
is | mentioned by |
dbSNP | rs61761068 |
dbSNP (classic) | rs61761068 |
ClinGen | rs61761068 |
ebi | rs61761068 |
HLI | rs61761068 |
Exac | rs61761068 |
Gnomad | rs61761068 |
Varsome | rs61761068 |
LitVar | rs61761068 |
Map | rs61761068 |
PheGenI | rs61761068 |
Biobank | rs61761068 |
1000 genomes | rs61761068 |
hgdp | rs61761068 |
ensembl | rs61761068 |
geneview | rs61761068 |
scholar | rs61761068 |
rs61761068 | |
pharmgkb | rs61761068 |
gwascentral | rs61761068 |
openSNP | rs61761068 |
23andMe | rs61761068 |
SNPshot | rs61761068 |
SNPdbe | rs61761068 |
MSV3d | rs61761068 |
GWAS Ctlg | rs61761068 |
GMAF | 0.00551 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61761068(T;T) |
Alt | rs61761068(T;T) |
Reference | Rs61761068(C;C) |
Significance | Pathogenic |
Disease | Ataxia-oculomotor apraxia 3 |
Variation | info |
Gene | PIK3R5 |
CLNDBN | Ataxia-oculomotor apraxia 3 |
Reversed | 1 |
HGVS | NC_000017.10:g.8790433G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000041972.3, |