rs1057518117
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057518117(A;A) |
Make rs1057518117(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 165373347 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs1057518117 |
dbSNP (classic) | rs1057518117 |
ClinGen | rs1057518117 |
ebi | rs1057518117 |
HLI | rs1057518117 |
Exac | rs1057518117 |
Gnomad | rs1057518117 |
Varsome | rs1057518117 |
LitVar | rs1057518117 |
Map | rs1057518117 |
PheGenI | rs1057518117 |
Biobank | rs1057518117 |
1000 genomes | rs1057518117 |
hgdp | rs1057518117 |
ensembl | rs1057518117 |
geneview | rs1057518117 |
scholar | rs1057518117 |
rs1057518117 | |
pharmgkb | rs1057518117 |
gwascentral | rs1057518117 |
openSNP | rs1057518117 |
23andMe | rs1057518117 |
SNPshot | rs1057518117 |
SNPdbe | rs1057518117 |
MSV3d | rs1057518117 |
GWAS Ctlg | rs1057518117 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518117(A;A) rs1057518117(C;C) |
Alt | rs1057518117(A;A) rs1057518117(C;C) |
Reference | Rs1057518117(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCN2A |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.166229857G>A; NC_000002.11:g.166229857G>C |
CLNSRC | |
CLNACC | RCV000413810.1, RCV000420707.1, |