rs797044983
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTGAACCGC;TTGAACCGC) | 0 | common in clinvar |
Make rs797044983(-;-) |
Make rs797044983(-;TTGAACCGC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165991763 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs797044983 |
dbSNP (classic) | rs797044983 |
ClinGen | rs797044983 |
ebi | rs797044983 |
HLI | rs797044983 |
Exac | rs797044983 |
Gnomad | rs797044983 |
Varsome | rs797044983 |
LitVar | rs797044983 |
Map | rs797044983 |
PheGenI | rs797044983 |
Biobank | rs797044983 |
1000 genomes | rs797044983 |
hgdp | rs797044983 |
ensembl | rs797044983 |
geneview | rs797044983 |
scholar | rs797044983 |
rs797044983 | |
pharmgkb | rs797044983 |
gwascentral | rs797044983 |
openSNP | rs797044983 |
23andMe | rs797044983 |
SNPshot | rs797044983 |
SNPdbe | rs797044983 |
MSV3d | rs797044983 |
GWAS Ctlg | rs797044983 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044983(-;-) |
Alt | rs797044983(-;-) |
Reference | Rs797044983(TTGAACCGC;TTGAACCGC) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166848273_166848281delGCGGTTCAA |
CLNSRC | |
CLNACC | RCV000190447.1, |