rs587777733
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587777733(A;C) |
Make rs587777733(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 36537312 |
Gene | MYO19, PIGW |
is a | snp |
is | mentioned by |
dbSNP | rs587777733 |
dbSNP (classic) | rs587777733 |
ClinGen | rs587777733 |
ebi | rs587777733 |
HLI | rs587777733 |
Exac | rs587777733 |
Gnomad | rs587777733 |
Varsome | rs587777733 |
LitVar | rs587777733 |
Map | rs587777733 |
PheGenI | rs587777733 |
Biobank | rs587777733 |
1000 genomes | rs587777733 |
hgdp | rs587777733 |
ensembl | rs587777733 |
geneview | rs587777733 |
scholar | rs587777733 |
rs587777733 | |
pharmgkb | rs587777733 |
gwascentral | rs587777733 |
openSNP | rs587777733 |
23andMe | rs587777733 |
SNPshot | rs587777733 |
SNPdbe | rs587777733 |
MSV3d | rs587777733 |
GWAS Ctlg | rs587777733 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777733(C;C) |
Alt | rs587777733(C;C) |
Reference | Rs587777733(A;A) |
Significance | Pathogenic |
Disease | Hyperphosphatasia with mental retardation syndrome 5 |
Variation | info |
Gene | MYO19 PIGW |
CLNDBN | Hyperphosphatasia with mental retardation syndrome 5 |
Reversed | 0 |
HGVS | NC_000017.10:g.34893161A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144174.4, |