rs121908112
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908112(A;A) |
Make rs121908112(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 74350553 |
Gene | GDAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908112 |
dbSNP (classic) | rs121908112 |
ClinGen | rs121908112 |
ebi | rs121908112 |
HLI | rs121908112 |
Exac | rs121908112 |
Gnomad | rs121908112 |
Varsome | rs121908112 |
LitVar | rs121908112 |
Map | rs121908112 |
PheGenI | rs121908112 |
Biobank | rs121908112 |
1000 genomes | rs121908112 |
hgdp | rs121908112 |
ensembl | rs121908112 |
geneview | rs121908112 |
scholar | rs121908112 |
rs121908112 | |
pharmgkb | rs121908112 |
gwascentral | rs121908112 |
openSNP | rs121908112 |
23andMe | rs121908112 |
SNPshot | rs121908112 |
SNPdbe | rs121908112 |
MSV3d | rs121908112 |
GWAS Ctlg | rs121908112 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908112(A;A) |
Alt | rs121908112(A;A) |
Reference | Rs121908112(G;G) |
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.75262788G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004409.2, |