rs752073942
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs752073942(A;A) |
Make rs752073942(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63438628 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs752073942 |
dbSNP (classic) | rs752073942 |
ClinGen | rs752073942 |
ebi | rs752073942 |
HLI | rs752073942 |
Exac | rs752073942 |
Gnomad | rs752073942 |
Varsome | rs752073942 |
LitVar | rs752073942 |
Map | rs752073942 |
PheGenI | rs752073942 |
Biobank | rs752073942 |
1000 genomes | rs752073942 |
hgdp | rs752073942 |
ensembl | rs752073942 |
geneview | rs752073942 |
scholar | rs752073942 |
rs752073942 | |
pharmgkb | rs752073942 |
gwascentral | rs752073942 |
openSNP | rs752073942 |
23andMe | rs752073942 |
SNPshot | rs752073942 |
SNPdbe | rs752073942 |
MSV3d | rs752073942 |
GWAS Ctlg | rs752073942 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752073942(A;A) rs752073942(C;C) |
Alt | rs752073942(A;A) rs752073942(C;C) |
Reference | Rs752073942(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | KCNQ2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000020.10:g.62069981G>C |
CLNSRC | |
CLNACC | RCV000187893.1, |