rs142173735
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs142173735(A;A) |
Make rs142173735(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38712340 |
Gene | SCN10A |
is a | snp |
is | mentioned by |
dbSNP | rs142173735 |
dbSNP (classic) | rs142173735 |
ClinGen | rs142173735 |
ebi | rs142173735 |
HLI | rs142173735 |
Exac | rs142173735 |
Gnomad | rs142173735 |
Varsome | rs142173735 |
LitVar | rs142173735 |
Map | rs142173735 |
PheGenI | rs142173735 |
Biobank | rs142173735 |
1000 genomes | rs142173735 |
hgdp | rs142173735 |
ensembl | rs142173735 |
geneview | rs142173735 |
scholar | rs142173735 |
rs142173735 | |
pharmgkb | rs142173735 |
gwascentral | rs142173735 |
openSNP | rs142173735 |
23andMe | rs142173735 |
SNPshot | rs142173735 |
SNPdbe | rs142173735 |
MSV3d | rs142173735 |
GWAS Ctlg | rs142173735 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142173735(A;A) rs142173735(T;T) |
Alt | rs142173735(A;A) rs142173735(T;T) |
Reference | Rs142173735(C;C) |
Significance | Pathogenic |
Disease | Episodic pain syndrome |
Variation | info |
Gene | SCN10A |
CLNDBN | Episodic pain syndrome, familial, 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.38753831C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074498.3, |