rs796051884
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs796051884(A;C) |
Make rs796051884(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 10639068 |
Gene | MYH3 |
is a | snp |
is | mentioned by |
dbSNP | rs796051884 |
dbSNP (classic) | rs796051884 |
ClinGen | rs796051884 |
ebi | rs796051884 |
HLI | rs796051884 |
Exac | rs796051884 |
Gnomad | rs796051884 |
Varsome | rs796051884 |
LitVar | rs796051884 |
Map | rs796051884 |
PheGenI | rs796051884 |
Biobank | rs796051884 |
1000 genomes | rs796051884 |
hgdp | rs796051884 |
ensembl | rs796051884 |
geneview | rs796051884 |
scholar | rs796051884 |
rs796051884 | |
pharmgkb | rs796051884 |
gwascentral | rs796051884 |
openSNP | rs796051884 |
23andMe | rs796051884 |
SNPshot | rs796051884 |
SNPdbe | rs796051884 |
MSV3d | rs796051884 |
GWAS Ctlg | rs796051884 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051884(C;C) |
Alt | rs796051884(C;C) |
Reference | Rs796051884(A;A) |
Significance | Pathogenic |
Disease | Distal arthrogryposis type 8 |
Variation | info |
Gene | MYH3 |
CLNDBN | Distal arthrogryposis type 8 |
Reversed | 1 |
HGVS | NC_000017.10:g.10542385T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000185627.3, |