rs745663149
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs745663149(C;T) |
Make rs745663149(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 74360199 |
Gene | GDAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs745663149 |
dbSNP (classic) | rs745663149 |
ClinGen | rs745663149 |
ebi | rs745663149 |
HLI | rs745663149 |
Exac | rs745663149 |
Gnomad | rs745663149 |
Varsome | rs745663149 |
LitVar | rs745663149 |
Map | rs745663149 |
PheGenI | rs745663149 |
Biobank | rs745663149 |
1000 genomes | rs745663149 |
hgdp | rs745663149 |
ensembl | rs745663149 |
geneview | rs745663149 |
scholar | rs745663149 |
rs745663149 | |
pharmgkb | rs745663149 |
gwascentral | rs745663149 |
openSNP | rs745663149 |
23andMe | rs745663149 |
SNPshot | rs745663149 |
SNPdbe | rs745663149 |
MSV3d | rs745663149 |
GWAS Ctlg | rs745663149 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs745663149(T;T) |
Alt | rs745663149(T;T) |
Reference | Rs745663149(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | GDAP1 |
CLNDBN | Charcot-Marie-Tooth disease, type 4A |
Reversed | 0 |
HGVS | NC_000008.10:g.75272434C>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201184.1, |