rs749718096
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs749718096(C;T) |
Make rs749718096(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 240775862 |
Gene | KIF1A |
is a | snp |
is | mentioned by |
dbSNP | rs749718096 |
dbSNP (classic) | rs749718096 |
ClinGen | rs749718096 |
ebi | rs749718096 |
HLI | rs749718096 |
Exac | rs749718096 |
Gnomad | rs749718096 |
Varsome | rs749718096 |
LitVar | rs749718096 |
Map | rs749718096 |
PheGenI | rs749718096 |
Biobank | rs749718096 |
1000 genomes | rs749718096 |
hgdp | rs749718096 |
ensembl | rs749718096 |
geneview | rs749718096 |
scholar | rs749718096 |
rs749718096 | |
pharmgkb | rs749718096 |
gwascentral | rs749718096 |
openSNP | rs749718096 |
23andMe | rs749718096 |
SNPshot | rs749718096 |
SNPdbe | rs749718096 |
MSV3d | rs749718096 |
GWAS Ctlg | rs749718096 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749718096(A;A) rs749718096(T;T) |
Alt | rs749718096(A;A) rs749718096(T;T) |
Reference | Rs749718096(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | KIF1A |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.241715279C>T |
CLNSRC | |
CLNACC | RCV000414618.1, |