rs121908220
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908220(C;T) |
Make rs121908220(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 13235685 |
Gene | CACNA1A |
is a | snp |
is | mentioned by |
dbSNP | rs121908220 |
dbSNP (classic) | rs121908220 |
ClinGen | rs121908220 |
ebi | rs121908220 |
HLI | rs121908220 |
Exac | rs121908220 |
Gnomad | rs121908220 |
Varsome | rs121908220 |
LitVar | rs121908220 |
Map | rs121908220 |
PheGenI | rs121908220 |
Biobank | rs121908220 |
1000 genomes | rs121908220 |
hgdp | rs121908220 |
ensembl | rs121908220 |
geneview | rs121908220 |
scholar | rs121908220 |
rs121908220 | |
pharmgkb | rs121908220 |
gwascentral | rs121908220 |
openSNP | rs121908220 |
23andMe | rs121908220 |
SNPshot | rs121908220 |
SNPdbe | rs121908220 |
MSV3d | rs121908220 |
GWAS Ctlg | rs121908220 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908220(T;T) |
Alt | rs121908220(T;T) |
Reference | Rs121908220(C;C) |
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.13346499G>A |
CLNSRC | UniProtKB (variants) |
CLNACC | RCV000059303.2, |