rs752135284
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTG;CTG) | 0 | common in clinvar |
Make rs752135284(-;-) |
Make rs752135284(-;CTG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 63944682 |
Gene | SCN4A |
is a | snp |
is | mentioned by |
dbSNP | rs752135284 |
dbSNP (classic) | rs752135284 |
ClinGen | rs752135284 |
ebi | rs752135284 |
HLI | rs752135284 |
Exac | rs752135284 |
Gnomad | rs752135284 |
Varsome | rs752135284 |
LitVar | rs752135284 |
Map | rs752135284 |
PheGenI | rs752135284 |
Biobank | rs752135284 |
1000 genomes | rs752135284 |
hgdp | rs752135284 |
ensembl | rs752135284 |
geneview | rs752135284 |
scholar | rs752135284 |
rs752135284 | |
pharmgkb | rs752135284 |
gwascentral | rs752135284 |
openSNP | rs752135284 |
23andMe | rs752135284 |
SNPshot | rs752135284 |
SNPdbe | rs752135284 |
MSV3d | rs752135284 |
GWAS Ctlg | rs752135284 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752135284(-;-) |
Alt | rs752135284(-;-) |
Reference | Rs752135284(CTG;CTG) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCN4A |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.62022042_62022044delCTG |
CLNSRC | |
CLNACC | RCV000415927.1, |