rs869320749
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCC;TCC) | 0 | common in clinvar |
Make rs869320749(-;-) |
Make rs869320749(-;TCC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 10648563 |
Gene | MYH3 |
is a | snp |
is | mentioned by |
dbSNP | rs869320749 |
dbSNP (classic) | rs869320749 |
ClinGen | rs869320749 |
ebi | rs869320749 |
HLI | rs869320749 |
Exac | rs869320749 |
Gnomad | rs869320749 |
Varsome | rs869320749 |
LitVar | rs869320749 |
Map | rs869320749 |
PheGenI | rs869320749 |
Biobank | rs869320749 |
1000 genomes | rs869320749 |
hgdp | rs869320749 |
ensembl | rs869320749 |
geneview | rs869320749 |
scholar | rs869320749 |
rs869320749 | |
pharmgkb | rs869320749 |
gwascentral | rs869320749 |
openSNP | rs869320749 |
23andMe | rs869320749 |
SNPshot | rs869320749 |
SNPdbe | rs869320749 |
MSV3d | rs869320749 |
GWAS Ctlg | rs869320749 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320749(-;-) |
Alt | rs869320749(-;-) |
Reference | Rs869320749(TCC;TCC) |
Significance | Pathogenic |
Disease | Distal arthrogryposis type 8 not provided |
Variation | info |
Gene | MYH3 |
CLNDBN | Distal arthrogryposis type 8 not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.10551880_10551882delGGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000185628.3, RCV000485237.1, |