rs377357931
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs377357931(C;T) |
Make rs377357931(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 109760253 |
Gene | FIG4 |
is a | snp |
is | mentioned by |
dbSNP | rs377357931 |
dbSNP (classic) | rs377357931 |
ClinGen | rs377357931 |
ebi | rs377357931 |
HLI | rs377357931 |
Exac | rs377357931 |
Gnomad | rs377357931 |
Varsome | rs377357931 |
LitVar | rs377357931 |
Map | rs377357931 |
PheGenI | rs377357931 |
Biobank | rs377357931 |
1000 genomes | rs377357931 |
hgdp | rs377357931 |
ensembl | rs377357931 |
geneview | rs377357931 |
scholar | rs377357931 |
rs377357931 | |
pharmgkb | rs377357931 |
gwascentral | rs377357931 |
openSNP | rs377357931 |
23andMe | rs377357931 |
SNPshot | rs377357931 |
SNPdbe | rs377357931 |
MSV3d | rs377357931 |
GWAS Ctlg | rs377357931 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377357931(T;T) |
Alt | rs377357931(T;T) |
Reference | Rs377357931(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | FIG4 |
CLNDBN | Charcot-Marie-Tooth disease, type 4J |
Reversed | 0 |
HGVS | NC_000006.11:g.110081456C>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201166.1, |