rs1060502047
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060502047(A;C) |
Make rs1060502047(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 166198763 |
Gene | LOC101929680, SCN9A |
is a | snp |
is | mentioned by |
dbSNP | rs1060502047 |
dbSNP (classic) | rs1060502047 |
ClinGen | rs1060502047 |
ebi | rs1060502047 |
HLI | rs1060502047 |
Exac | rs1060502047 |
Gnomad | rs1060502047 |
Varsome | rs1060502047 |
LitVar | rs1060502047 |
Map | rs1060502047 |
PheGenI | rs1060502047 |
Biobank | rs1060502047 |
1000 genomes | rs1060502047 |
hgdp | rs1060502047 |
ensembl | rs1060502047 |
geneview | rs1060502047 |
scholar | rs1060502047 |
rs1060502047 | |
pharmgkb | rs1060502047 |
gwascentral | rs1060502047 |
openSNP | rs1060502047 |
23andMe | rs1060502047 |
SNPshot | rs1060502047 |
SNPdbe | rs1060502047 |
MSV3d | rs1060502047 |
GWAS Ctlg | rs1060502047 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502047(C;C) |
Alt | rs1060502047(C;C) |
Reference | Rs1060502047(A;A) |
Significance | Probable-Pathogenic |
Disease | Hereditary sensory and autonomic neuropathy type IIA |
Variation | info |
Gene | LOC101929680 SCN9A |
CLNDBN | Hereditary sensory and autonomic neuropathy type IIA |
Reversed | 1 |
HGVS | NC_000002.11:g.167055273T>G |
CLNSRC | |
CLNACC | RCV000467475.1, |