rs200662973
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs200662973(A;G) |
Make rs200662973(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 10533312 |
Gene | MYHAS, MYH2 |
is a | snp |
is | mentioned by |
dbSNP | rs200662973 |
dbSNP (classic) | rs200662973 |
ClinGen | rs200662973 |
ebi | rs200662973 |
HLI | rs200662973 |
Exac | rs200662973 |
Gnomad | rs200662973 |
Varsome | rs200662973 |
LitVar | rs200662973 |
Map | rs200662973 |
PheGenI | rs200662973 |
Biobank | rs200662973 |
1000 genomes | rs200662973 |
hgdp | rs200662973 |
ensembl | rs200662973 |
geneview | rs200662973 |
scholar | rs200662973 |
rs200662973 | |
pharmgkb | rs200662973 |
gwascentral | rs200662973 |
openSNP | rs200662973 |
23andMe | rs200662973 |
SNPshot | rs200662973 |
SNPdbe | rs200662973 |
MSV3d | rs200662973 |
GWAS Ctlg | rs200662973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200662973(G;G) |
Alt | rs200662973(G;G) |
Reference | Rs200662973(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Inclusion body myopathy 3 |
Variation | info |
Gene | MYH2 MYHAS |
CLNDBN | not specified Inclusion body myopathy 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.10436629A>G |
CLNSRC | |
CLNACC | RCV000455902.1, RCV000490432.1, |