rs121908615
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
(G;G) | 0 | common in clinvar |
Make rs121908615(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 11549693 |
Gene | LITAF |
is a | snp |
is | mentioned by |
dbSNP | rs121908615 |
dbSNP (classic) | rs121908615 |
ClinGen | rs121908615 |
ebi | rs121908615 |
HLI | rs121908615 |
Exac | rs121908615 |
Gnomad | rs121908615 |
Varsome | rs121908615 |
LitVar | rs121908615 |
Map | rs121908615 |
PheGenI | rs121908615 |
Biobank | rs121908615 |
1000 genomes | rs121908615 |
hgdp | rs121908615 |
ensembl | rs121908615 |
geneview | rs121908615 |
scholar | rs121908615 |
rs121908615 | |
pharmgkb | rs121908615 |
gwascentral | rs121908615 |
openSNP | rs121908615 |
23andMe | rs121908615 |
SNPshot | rs121908615 |
SNPdbe | rs121908615 |
MSV3d | rs121908615 |
GWAS Ctlg | rs121908615 |
Max Magnitude | 6.1 |
ClinVar | |
---|---|
Risk | rs121908615(A;A) |
Alt | rs121908615(A;A) |
Reference | Rs121908615(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | LITAF |
CLNDBN | Charcot-Marie-Tooth disease, type 1C |
Reversed | 1 |
HGVS | NC_000016.9:g.11643549C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006433.2, |