rs755919784
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs755919784(C;C) |
Make rs755919784(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 13072400 |
Gene | SPTLC3 |
is a | snp |
is | mentioned by |
dbSNP | rs755919784 |
dbSNP (classic) | rs755919784 |
ClinGen | rs755919784 |
ebi | rs755919784 |
HLI | rs755919784 |
Exac | rs755919784 |
Gnomad | rs755919784 |
Varsome | rs755919784 |
LitVar | rs755919784 |
Map | rs755919784 |
PheGenI | rs755919784 |
Biobank | rs755919784 |
1000 genomes | rs755919784 |
hgdp | rs755919784 |
ensembl | rs755919784 |
geneview | rs755919784 |
scholar | rs755919784 |
rs755919784 | |
pharmgkb | rs755919784 |
gwascentral | rs755919784 |
openSNP | rs755919784 |
23andMe | rs755919784 |
SNPshot | rs755919784 |
SNPdbe | rs755919784 |
MSV3d | rs755919784 |
GWAS Ctlg | rs755919784 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755919784(C;C) |
Alt | rs755919784(C;C) |
Reference | Rs755919784(T;T) |
Significance | Probable-Pathogenic |
Disease | Peripheral neuropathy Sensory neuropathy |
Variation | info |
Gene | SPTLC3 |
CLNDBN | Peripheral neuropathy Sensory neuropathy |
Reversed | 0 |
HGVS | NC_000020.10:g.13053048T>C |
CLNSRC | |
CLNACC | RCV000235090.1, |