rs138607170
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138607170(A;A) |
Make rs138607170(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38925454 |
Gene | SCN11A |
is a | snp |
is | mentioned by |
dbSNP | rs138607170 |
dbSNP (classic) | rs138607170 |
ClinGen | rs138607170 |
ebi | rs138607170 |
HLI | rs138607170 |
Exac | rs138607170 |
Gnomad | rs138607170 |
Varsome | rs138607170 |
LitVar | rs138607170 |
Map | rs138607170 |
PheGenI | rs138607170 |
Biobank | rs138607170 |
1000 genomes | rs138607170 |
hgdp | rs138607170 |
ensembl | rs138607170 |
geneview | rs138607170 |
scholar | rs138607170 |
rs138607170 | |
pharmgkb | rs138607170 |
gwascentral | rs138607170 |
openSNP | rs138607170 |
23andMe | rs138607170 |
SNPshot | rs138607170 |
SNPdbe | rs138607170 |
MSV3d | rs138607170 |
GWAS Ctlg | rs138607170 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138607170(A;A) |
Alt | rs138607170(A;A) |
Reference | Rs138607170(G;G) |
Significance | Pathogenic |
Disease | Episodic pain syndrome |
Variation | info |
Gene | SCN11A |
CLNDBN | Episodic pain syndrome, familial, 3 |
Reversed | 0 |
HGVS | NC_000003.11:g.38966945G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074495.3, |