rs1060500978
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060500978(-;-) |
Make rs1060500978(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 74364076 |
Gene | GDAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500978 |
dbSNP (classic) | rs1060500978 |
ClinGen | rs1060500978 |
ebi | rs1060500978 |
HLI | rs1060500978 |
Exac | rs1060500978 |
Gnomad | rs1060500978 |
Varsome | rs1060500978 |
LitVar | rs1060500978 |
Map | rs1060500978 |
PheGenI | rs1060500978 |
Biobank | rs1060500978 |
1000 genomes | rs1060500978 |
hgdp | rs1060500978 |
ensembl | rs1060500978 |
geneview | rs1060500978 |
scholar | rs1060500978 |
rs1060500978 | |
pharmgkb | rs1060500978 |
gwascentral | rs1060500978 |
openSNP | rs1060500978 |
23andMe | rs1060500978 |
SNPshot | rs1060500978 |
SNPdbe | rs1060500978 |
MSV3d | rs1060500978 |
GWAS Ctlg | rs1060500978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500978(-;-) |
Alt | rs1060500978(-;-) |
Reference | Rs1060500978(G;G) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | GDAP1 |
CLNDBN | Charcot-Marie-Tooth disease, type 4A not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.75276311delG |
CLNSRC | |
CLNACC | RCV000456890.1, RCV000479637.1, |