rs119454949
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs119454949(A;A) |
Make rs119454949(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 1205153 |
Gene | CACNA1H |
is a | snp |
is | mentioned by |
dbSNP | rs119454949 |
dbSNP (classic) | rs119454949 |
ClinGen | rs119454949 |
ebi | rs119454949 |
HLI | rs119454949 |
Exac | rs119454949 |
Gnomad | rs119454949 |
Varsome | rs119454949 |
LitVar | rs119454949 |
Map | rs119454949 |
PheGenI | rs119454949 |
Biobank | rs119454949 |
1000 genomes | rs119454949 |
hgdp | rs119454949 |
ensembl | rs119454949 |
geneview | rs119454949 |
scholar | rs119454949 |
rs119454949 | |
pharmgkb | rs119454949 |
gwascentral | rs119454949 |
openSNP | rs119454949 |
23andMe | rs119454949 |
SNPshot | rs119454949 |
SNPdbe | rs119454949 |
MSV3d | rs119454949 |
GWAS Ctlg | rs119454949 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119454949(A;A) |
Alt | rs119454949(A;A) |
Reference | Rs119454949(G;G) |
Significance | Other |
Disease | Epilepsy |
Variation | info |
Gene | CACNA1H |
CLNDBN | Epilepsy, childhood absence 6 |
Reversed | 0 |
HGVS | NC_000016.9:g.1255153G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002822.2, |