rs373698346
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs373698346(A;G) |
Make rs373698346(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 10275444 |
Gene | KIF1B |
is a | snp |
is | mentioned by |
dbSNP | rs373698346 |
dbSNP (classic) | rs373698346 |
ClinGen | rs373698346 |
ebi | rs373698346 |
HLI | rs373698346 |
Exac | rs373698346 |
Gnomad | rs373698346 |
Varsome | rs373698346 |
LitVar | rs373698346 |
Map | rs373698346 |
PheGenI | rs373698346 |
Biobank | rs373698346 |
1000 genomes | rs373698346 |
hgdp | rs373698346 |
ensembl | rs373698346 |
geneview | rs373698346 |
scholar | rs373698346 |
rs373698346 | |
pharmgkb | rs373698346 |
gwascentral | rs373698346 |
openSNP | rs373698346 |
23andMe | rs373698346 |
SNPshot | rs373698346 |
SNPdbe | rs373698346 |
MSV3d | rs373698346 |
GWAS Ctlg | rs373698346 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373698346(G;G) |
Alt | rs373698346(G;G) |
Reference | Rs373698346(A;A) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
Variation | info |
Gene | KIF1B |
CLNDBN | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.10335502A>G |
CLNSRC | ClinVar |
CLNACC | RCV000144876.1, RCV000167979.1, |