rs281865065
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs281865065(A;G) |
Make rs281865065(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32633547 |
Gene | FGD4 |
is a | snp |
is | mentioned by |
dbSNP | rs281865065 |
dbSNP (classic) | rs281865065 |
ClinGen | rs281865065 |
ebi | rs281865065 |
HLI | rs281865065 |
Exac | rs281865065 |
Gnomad | rs281865065 |
Varsome | rs281865065 |
LitVar | rs281865065 |
Map | rs281865065 |
PheGenI | rs281865065 |
Biobank | rs281865065 |
1000 genomes | rs281865065 |
hgdp | rs281865065 |
ensembl | rs281865065 |
geneview | rs281865065 |
scholar | rs281865065 |
rs281865065 | |
pharmgkb | rs281865065 |
gwascentral | rs281865065 |
openSNP | rs281865065 |
23andMe | rs281865065 |
SNPshot | rs281865065 |
SNPdbe | rs281865065 |
MSV3d | rs281865065 |
GWAS Ctlg | rs281865065 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865065(G;G) |
Alt | rs281865065(G;G) |
Reference | Rs281865065(A;A) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | FGD4 |
CLNDBN | Charcot-Marie-Tooth disease, type 4H |
Reversed | 0 |
HGVS | NC_000012.11:g.32786481A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001072.4, |