rs775417996
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs775417996(A;A) |
Make rs775417996(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237784085 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs775417996 |
dbSNP (classic) | rs775417996 |
ClinGen | rs775417996 |
ebi | rs775417996 |
HLI | rs775417996 |
Exac | rs775417996 |
Gnomad | rs775417996 |
Varsome | rs775417996 |
LitVar | rs775417996 |
Map | rs775417996 |
PheGenI | rs775417996 |
Biobank | rs775417996 |
1000 genomes | rs775417996 |
hgdp | rs775417996 |
ensembl | rs775417996 |
geneview | rs775417996 |
scholar | rs775417996 |
rs775417996 | |
pharmgkb | rs775417996 |
gwascentral | rs775417996 |
openSNP | rs775417996 |
23andMe | rs775417996 |
SNPshot | rs775417996 |
SNPdbe | rs775417996 |
MSV3d | rs775417996 |
GWAS Ctlg | rs775417996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775417996(A;A) rs775417996(T;T) |
Alt | rs775417996(A;A) rs775417996(T;T) |
Reference | Rs775417996(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | RYR2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.237947385G>T |
CLNSRC | |
CLNACC | RCV000182817.2, |