rs758395765
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs758395765(A;T) |
Make rs758395765(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 10533321 |
Gene | MYHAS, MYH2 |
is a | snp |
is | mentioned by |
dbSNP | rs758395765 |
dbSNP (classic) | rs758395765 |
ClinGen | rs758395765 |
ebi | rs758395765 |
HLI | rs758395765 |
Exac | rs758395765 |
Gnomad | rs758395765 |
Varsome | rs758395765 |
LitVar | rs758395765 |
Map | rs758395765 |
PheGenI | rs758395765 |
Biobank | rs758395765 |
1000 genomes | rs758395765 |
hgdp | rs758395765 |
ensembl | rs758395765 |
geneview | rs758395765 |
scholar | rs758395765 |
rs758395765 | |
pharmgkb | rs758395765 |
gwascentral | rs758395765 |
openSNP | rs758395765 |
23andMe | rs758395765 |
SNPshot | rs758395765 |
SNPdbe | rs758395765 |
MSV3d | rs758395765 |
GWAS Ctlg | rs758395765 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758395765(T;T) |
Alt | rs758395765(T;T) |
Reference | Rs758395765(A;A) |
Significance | Pathogenic |
Disease | Inclusion body myopathy 3 |
Variation | info |
Gene | MYH2 MYHAS |
CLNDBN | Inclusion body myopathy 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.10436638A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162321.2, |