rs118203972
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118203972(C;T) |
Make rs118203972(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32598566 |
Gene | FGD4 |
is a | snp |
is | mentioned by |
dbSNP | rs118203972 |
dbSNP (classic) | rs118203972 |
ClinGen | rs118203972 |
ebi | rs118203972 |
HLI | rs118203972 |
Exac | rs118203972 |
Gnomad | rs118203972 |
Varsome | rs118203972 |
LitVar | rs118203972 |
Map | rs118203972 |
PheGenI | rs118203972 |
Biobank | rs118203972 |
1000 genomes | rs118203972 |
hgdp | rs118203972 |
ensembl | rs118203972 |
geneview | rs118203972 |
scholar | rs118203972 |
rs118203972 | |
pharmgkb | rs118203972 |
gwascentral | rs118203972 |
openSNP | rs118203972 |
23andMe | rs118203972 |
SNPshot | rs118203972 |
SNPdbe | rs118203972 |
MSV3d | rs118203972 |
GWAS Ctlg | rs118203972 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203972(T;T) |
Alt | rs118203972(T;T) |
Reference | Rs118203972(C;C) |
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.32751500C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001066.2, |