rs121908237
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908237(G;T) |
Make rs121908237(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 13259589 |
Gene | CACNA1A |
is a | snp |
is | mentioned by |
dbSNP | rs121908237 |
dbSNP (classic) | rs121908237 |
ClinGen | rs121908237 |
ebi | rs121908237 |
HLI | rs121908237 |
Exac | rs121908237 |
Gnomad | rs121908237 |
Varsome | rs121908237 |
LitVar | rs121908237 |
Map | rs121908237 |
PheGenI | rs121908237 |
Biobank | rs121908237 |
1000 genomes | rs121908237 |
hgdp | rs121908237 |
ensembl | rs121908237 |
geneview | rs121908237 |
scholar | rs121908237 |
rs121908237 | |
pharmgkb | rs121908237 |
gwascentral | rs121908237 |
openSNP | rs121908237 |
23andMe | rs121908237 |
SNPshot | rs121908237 |
SNPdbe | rs121908237 |
MSV3d | rs121908237 |
GWAS Ctlg | rs121908237 |
Merged from | Rs121909322 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908237(T;T) |
Alt | rs121908237(T;T) |
Reference | Rs121908237(G;G) |
Significance | Pathogenic |
Disease | Familial hemiplegic migraine type 1 |
Variation | info |
Gene | CACNA1A |
CLNDBN | Familial hemiplegic migraine type 1 |
Reversed | 1 |
HGVS | NC_000019.9:g.13370403C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (variants) |
CLNACC | RCV000009026.5, |
[PMID 10408532] Genetic heterogeneity in Italian families with familial hemiplegic migraine.