rs727504976
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504976(A;A) |
Make rs727504976(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237639162 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs727504976 |
dbSNP (classic) | rs727504976 |
ClinGen | rs727504976 |
ebi | rs727504976 |
HLI | rs727504976 |
Exac | rs727504976 |
Gnomad | rs727504976 |
Varsome | rs727504976 |
LitVar | rs727504976 |
Map | rs727504976 |
PheGenI | rs727504976 |
Biobank | rs727504976 |
1000 genomes | rs727504976 |
hgdp | rs727504976 |
ensembl | rs727504976 |
geneview | rs727504976 |
scholar | rs727504976 |
rs727504976 | |
pharmgkb | rs727504976 |
gwascentral | rs727504976 |
openSNP | rs727504976 |
23andMe | rs727504976 |
SNPshot | rs727504976 |
SNPdbe | rs727504976 |
MSV3d | rs727504976 |
GWAS Ctlg | rs727504976 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504976(A;A) |
Alt | rs727504976(A;A) |
Reference | Rs727504976(G;G) |
Significance | Pathogenic |
Disease | not specified |
Variation | info |
Gene | RYR2 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.237802462G>A |
CLNSRC | |
CLNACC | RCV000156389.1, |