rs150619347
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs150619347(A;A) |
Make rs150619347(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 230988440 |
Gene | ARV1 |
is a | snp |
is | mentioned by |
dbSNP | rs150619347 |
dbSNP (classic) | rs150619347 |
ClinGen | rs150619347 |
ebi | rs150619347 |
HLI | rs150619347 |
Exac | rs150619347 |
Gnomad | rs150619347 |
Varsome | rs150619347 |
LitVar | rs150619347 |
Map | rs150619347 |
PheGenI | rs150619347 |
Biobank | rs150619347 |
1000 genomes | rs150619347 |
hgdp | rs150619347 |
ensembl | rs150619347 |
geneview | rs150619347 |
scholar | rs150619347 |
rs150619347 | |
pharmgkb | rs150619347 |
gwascentral | rs150619347 |
openSNP | rs150619347 |
23andMe | rs150619347 |
SNPshot | rs150619347 |
SNPdbe | rs150619347 |
MSV3d | rs150619347 |
GWAS Ctlg | rs150619347 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150619347(A;A) |
Alt | rs150619347(A;A) |
Reference | Rs150619347(G;G) |
Significance | Pathogenic |
Disease | ARV1-related condition Epileptic encephalopathy |
Variation | info |
Gene | ARV1 |
CLNDBN | ARV1-related condition Epileptic encephalopathy, early infantile, 38 |
Reversed | 0 |
HGVS | NC_000001.10:g.231124186G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234848.1, RCV000235015.2, |