rs746770617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs746770617(C;C) |
Make rs746770617(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 10535367 |
Gene | MYHAS, MYH2 |
is a | snp |
is | mentioned by |
dbSNP | rs746770617 |
dbSNP (classic) | rs746770617 |
ClinGen | rs746770617 |
ebi | rs746770617 |
HLI | rs746770617 |
Exac | rs746770617 |
Gnomad | rs746770617 |
Varsome | rs746770617 |
LitVar | rs746770617 |
Map | rs746770617 |
PheGenI | rs746770617 |
Biobank | rs746770617 |
1000 genomes | rs746770617 |
hgdp | rs746770617 |
ensembl | rs746770617 |
geneview | rs746770617 |
scholar | rs746770617 |
rs746770617 | |
pharmgkb | rs746770617 |
gwascentral | rs746770617 |
openSNP | rs746770617 |
23andMe | rs746770617 |
SNPshot | rs746770617 |
SNPdbe | rs746770617 |
MSV3d | rs746770617 |
GWAS Ctlg | rs746770617 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746770617(C;C) |
Alt | rs746770617(C;C) |
Reference | Rs746770617(T;T) |
Significance | Pathogenic |
Disease | Inclusion body myopathy 3 |
Variation | info |
Gene | MYH2 MYHAS |
CLNDBN | Inclusion body myopathy 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.10438684T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162320.2, |