rs121908288
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908288(C;T) |
Make rs121908288(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 109735199 |
Gene | FIG4 |
is a | snp |
is | mentioned by |
dbSNP | rs121908288 |
dbSNP (classic) | rs121908288 |
ClinGen | rs121908288 |
ebi | rs121908288 |
HLI | rs121908288 |
Exac | rs121908288 |
Gnomad | rs121908288 |
Varsome | rs121908288 |
LitVar | rs121908288 |
Map | rs121908288 |
PheGenI | rs121908288 |
Biobank | rs121908288 |
1000 genomes | rs121908288 |
hgdp | rs121908288 |
ensembl | rs121908288 |
geneview | rs121908288 |
scholar | rs121908288 |
rs121908288 | |
pharmgkb | rs121908288 |
gwascentral | rs121908288 |
openSNP | rs121908288 |
23andMe | rs121908288 |
SNPshot | rs121908288 |
SNPdbe | rs121908288 |
MSV3d | rs121908288 |
GWAS Ctlg | rs121908288 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908288(A;A) rs121908288(T;T) |
Alt | rs121908288(A;A) rs121908288(T;T) |
Reference | Rs121908288(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease Amyotrophic lateral sclerosis type 11 not provided |
Variation | info |
Gene | FIG4 |
CLNDBN | Charcot-Marie-Tooth disease, type 4J Amyotrophic lateral sclerosis type 11 not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.110056402C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001793.3, RCV000001796.3, RCV000235305.1, |