rs104894077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894077(C;T) |
Make rs104894077(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 74361886 |
Gene | GDAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894077 |
dbSNP (classic) | rs104894077 |
ClinGen | rs104894077 |
ebi | rs104894077 |
HLI | rs104894077 |
Exac | rs104894077 |
Gnomad | rs104894077 |
Varsome | rs104894077 |
LitVar | rs104894077 |
Map | rs104894077 |
PheGenI | rs104894077 |
Biobank | rs104894077 |
1000 genomes | rs104894077 |
hgdp | rs104894077 |
ensembl | rs104894077 |
geneview | rs104894077 |
scholar | rs104894077 |
rs104894077 | |
pharmgkb | rs104894077 |
gwascentral | rs104894077 |
openSNP | rs104894077 |
23andMe | rs104894077 |
SNPshot | rs104894077 |
SNPdbe | rs104894077 |
MSV3d | rs104894077 |
GWAS Ctlg | rs104894077 |
GMAF | 0.0 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894077(T;T) |
Alt | rs104894077(T;T) |
Reference | Rs104894077(C;C) |
Significance | Pathogenic |
Disease | Neuropathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | GDAP1 |
CLNDBN | Neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, type 4A not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.75274121C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004413.3, RCV000031963.1, RCV000204463.2, RCV000236485.1, |