rs879255230
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTC;CTC) | 0 | common in clinvar |
Make rs879255230(-;-) |
Make rs879255230(-;CTC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 10640086 |
Gene | MYH3 |
is a | snp |
is | mentioned by |
dbSNP | rs879255230 |
dbSNP (classic) | rs879255230 |
ClinGen | rs879255230 |
ebi | rs879255230 |
HLI | rs879255230 |
Exac | rs879255230 |
Gnomad | rs879255230 |
Varsome | rs879255230 |
LitVar | rs879255230 |
Map | rs879255230 |
PheGenI | rs879255230 |
Biobank | rs879255230 |
1000 genomes | rs879255230 |
hgdp | rs879255230 |
ensembl | rs879255230 |
geneview | rs879255230 |
scholar | rs879255230 |
rs879255230 | |
pharmgkb | rs879255230 |
gwascentral | rs879255230 |
openSNP | rs879255230 |
23andMe | rs879255230 |
SNPshot | rs879255230 |
SNPdbe | rs879255230 |
MSV3d | rs879255230 |
GWAS Ctlg | rs879255230 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255230(-;-) |
Alt | rs879255230(-;-) |
Reference | Rs879255230(CTC;CTC) |
Significance | Pathogenic |
Disease | Distal arthrogryposis type 2B |
Variation | info |
Gene | MYH3 |
CLNDBN | Distal arthrogryposis type 2B |
Reversed | 1 |
HGVS | NC_000017.10:g.10543403_10543405delGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015205.26, |