rs1064793678
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCGGCATTGAGAAC;TCGGCATTGAGAAC) | 0 | common in clinvar |
Chromosome | 2 |
Position | 166052896 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs1064793678 |
dbSNP (classic) | rs1064793678 |
ClinGen | rs1064793678 |
ebi | rs1064793678 |
HLI | rs1064793678 |
Exac | rs1064793678 |
Gnomad | rs1064793678 |
Varsome | rs1064793678 |
LitVar | rs1064793678 |
Map | rs1064793678 |
PheGenI | rs1064793678 |
Biobank | rs1064793678 |
1000 genomes | rs1064793678 |
hgdp | rs1064793678 |
ensembl | rs1064793678 |
geneview | rs1064793678 |
scholar | rs1064793678 |
rs1064793678 | |
pharmgkb | rs1064793678 |
gwascentral | rs1064793678 |
openSNP | rs1064793678 |
23andMe | rs1064793678 |
SNPshot | rs1064793678 |
SNPdbe | rs1064793678 |
MSV3d | rs1064793678 |
GWAS Ctlg | rs1064793678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064793678(CACA;CACA) |
Alt | rs1064793678(CACA;CACA) |
Reference | Rs1064793678(TCGGCATTGAGAAC;TCGGCATTGAGAAC) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCN1A |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166909406_166909419delGTTCTCAATGCCGAinsTGTG |
CLNSRC | |
CLNACC | RCV000485303.1, |