rs750997506
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs750997506(C;C) |
Make rs750997506(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165996073 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs750997506 |
dbSNP (classic) | rs750997506 |
ClinGen | rs750997506 |
ebi | rs750997506 |
HLI | rs750997506 |
Exac | rs750997506 |
Gnomad | rs750997506 |
Varsome | rs750997506 |
LitVar | rs750997506 |
Map | rs750997506 |
PheGenI | rs750997506 |
Biobank | rs750997506 |
1000 genomes | rs750997506 |
hgdp | rs750997506 |
ensembl | rs750997506 |
geneview | rs750997506 |
scholar | rs750997506 |
rs750997506 | |
pharmgkb | rs750997506 |
gwascentral | rs750997506 |
openSNP | rs750997506 |
23andMe | rs750997506 |
SNPshot | rs750997506 |
SNPdbe | rs750997506 |
MSV3d | rs750997506 |
GWAS Ctlg | rs750997506 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750997506(A;A) rs750997506(C;C) |
Alt | rs750997506(A;A) rs750997506(C;C) |
Reference | Rs750997506(G;G) |
Significance | Pathogenic |
Disease | not specified Inborn genetic diseases |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | not specified Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000002.11:g.166852583G>A; NC_000002.11:g.166852583G>C |
CLNSRC | |
CLNACC | RCV000421967.1, RCV000190807.1, |