rs139808557
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139808557(A;A) |
Make rs139808557(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 74360225 |
Gene | GDAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs139808557 |
dbSNP (classic) | rs139808557 |
ClinGen | rs139808557 |
ebi | rs139808557 |
HLI | rs139808557 |
Exac | rs139808557 |
Gnomad | rs139808557 |
Varsome | rs139808557 |
LitVar | rs139808557 |
Map | rs139808557 |
PheGenI | rs139808557 |
Biobank | rs139808557 |
1000 genomes | rs139808557 |
hgdp | rs139808557 |
ensembl | rs139808557 |
geneview | rs139808557 |
scholar | rs139808557 |
rs139808557 | |
pharmgkb | rs139808557 |
gwascentral | rs139808557 |
openSNP | rs139808557 |
23andMe | rs139808557 |
SNPshot | rs139808557 |
SNPdbe | rs139808557 |
MSV3d | rs139808557 |
GWAS Ctlg | rs139808557 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139808557(A;A) |
Alt | rs139808557(A;A) |
Reference | Rs139808557(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Charcot-Marie-Tooth disease |
Variation | info |
Gene | GDAP1 |
CLNDBN | not specified Charcot-Marie-Tooth disease, type 4A |
Reversed | 0 |
HGVS | NC_000008.10:g.75272460G>A |
CLNSRC | |
CLNACC | RCV000236408.2, RCV000474009.1, |