rs281865135
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865135(C;T) |
Make rs281865135(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 11549720 |
Gene | LITAF |
is a | snp |
is | mentioned by |
dbSNP | rs281865135 |
dbSNP (classic) | rs281865135 |
ClinGen | rs281865135 |
ebi | rs281865135 |
HLI | rs281865135 |
Exac | rs281865135 |
Gnomad | rs281865135 |
Varsome | rs281865135 |
LitVar | rs281865135 |
Map | rs281865135 |
PheGenI | rs281865135 |
Biobank | rs281865135 |
1000 genomes | rs281865135 |
hgdp | rs281865135 |
ensembl | rs281865135 |
geneview | rs281865135 |
scholar | rs281865135 |
rs281865135 | |
pharmgkb | rs281865135 |
gwascentral | rs281865135 |
openSNP | rs281865135 |
23andMe | rs281865135 |
SNPshot | rs281865135 |
SNPdbe | rs281865135 |
MSV3d | rs281865135 |
GWAS Ctlg | rs281865135 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865135(A;A) rs281865135(T;T) |
Alt | rs281865135(A;A) rs281865135(T;T) |
Reference | Rs281865135(C;C) |
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.11643576G>A; NC_000016.9:g.11643576G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034130.2, RCV000034129.2, |