rs878853126
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs878853126(-;AAT) |
Make rs878853126(AAT;AAT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 10639075 |
Gene | MYH3 |
is a | snp |
is | mentioned by |
dbSNP | rs878853126 |
dbSNP (classic) | rs878853126 |
ClinGen | rs878853126 |
ebi | rs878853126 |
HLI | rs878853126 |
Exac | rs878853126 |
Gnomad | rs878853126 |
Varsome | rs878853126 |
LitVar | rs878853126 |
Map | rs878853126 |
PheGenI | rs878853126 |
Biobank | rs878853126 |
1000 genomes | rs878853126 |
hgdp | rs878853126 |
ensembl | rs878853126 |
geneview | rs878853126 |
scholar | rs878853126 |
rs878853126 | |
pharmgkb | rs878853126 |
gwascentral | rs878853126 |
openSNP | rs878853126 |
23andMe | rs878853126 |
SNPshot | rs878853126 |
SNPdbe | rs878853126 |
MSV3d | rs878853126 |
GWAS Ctlg | rs878853126 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853126(AAT;AAT) |
Alt | rs878853126(AAT;AAT) |
Reference | Rs878853126(-;-) |
Significance | Pathogenic |
Disease | Distal arthrogryposis type 8 |
Variation | info |
Gene | MYH3 |
CLNDBN | Distal arthrogryposis type 8 |
Reversed | 1 |
HGVS | NC_000017.10:g.10542393_10542395dupATT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000224820.2, |