rs483352920
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs483352920(C;C) |
Make rs483352920(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38894936 |
Gene | SCN11A |
is a | snp |
is | mentioned by |
dbSNP | rs483352920 |
dbSNP (classic) | rs483352920 |
ClinGen | rs483352920 |
ebi | rs483352920 |
HLI | rs483352920 |
Exac | rs483352920 |
Gnomad | rs483352920 |
Varsome | rs483352920 |
LitVar | rs483352920 |
Map | rs483352920 |
PheGenI | rs483352920 |
Biobank | rs483352920 |
1000 genomes | rs483352920 |
hgdp | rs483352920 |
ensembl | rs483352920 |
geneview | rs483352920 |
scholar | rs483352920 |
rs483352920 | |
pharmgkb | rs483352920 |
gwascentral | rs483352920 |
openSNP | rs483352920 |
23andMe | rs483352920 |
SNPshot | rs483352920 |
SNPdbe | rs483352920 |
MSV3d | rs483352920 |
GWAS Ctlg | rs483352920 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352920(C;C) |
Alt | rs483352920(C;C) |
Reference | Rs483352920(T;T) |
Significance | Pathogenic |
Disease | Neuropathy |
Variation | info |
Gene | SCN11A |
CLNDBN | Neuropathy, hereditary sensory and autonomic, type VII |
Reversed | 1 |
HGVS | NC_000003.11:g.38936427A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074494.3, |