rs750053946
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs750053946(C;C) |
Make rs750053946(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 63951891 |
Gene | SCN4A |
is a | snp |
is | mentioned by |
dbSNP | rs750053946 |
dbSNP (classic) | rs750053946 |
ClinGen | rs750053946 |
ebi | rs750053946 |
HLI | rs750053946 |
Exac | rs750053946 |
Gnomad | rs750053946 |
Varsome | rs750053946 |
LitVar | rs750053946 |
Map | rs750053946 |
PheGenI | rs750053946 |
Biobank | rs750053946 |
1000 genomes | rs750053946 |
hgdp | rs750053946 |
ensembl | rs750053946 |
geneview | rs750053946 |
scholar | rs750053946 |
rs750053946 | |
pharmgkb | rs750053946 |
gwascentral | rs750053946 |
openSNP | rs750053946 |
23andMe | rs750053946 |
SNPshot | rs750053946 |
SNPdbe | rs750053946 |
MSV3d | rs750053946 |
GWAS Ctlg | rs750053946 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750053946(A;A) rs750053946(C;C) |
Alt | rs750053946(A;A) rs750053946(C;C) |
Reference | Rs750053946(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | SCN4A |
CLNDBN | not specified not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.62029251G>A; NC_000017.10:g.62029251G>C |
CLNSRC | |
CLNACC | RCV000440073.1, RCV000435175.1, |