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rs587777733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777733(A;C)
Make rs587777733(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position36537312
GeneMYO19, PIGW
is asnp
is mentioned by
dbSNPrs587777733
dbSNP (classic)rs587777733
ClinGenrs587777733
ebirs587777733
HLIrs587777733
Exacrs587777733
Gnomadrs587777733
Varsomers587777733
LitVarrs587777733
Maprs587777733
PheGenIrs587777733
Biobankrs587777733
1000 genomesrs587777733
hgdprs587777733
ensemblrs587777733
geneviewrs587777733
scholarrs587777733
googlers587777733
pharmgkbrs587777733
gwascentralrs587777733
openSNPrs587777733
23andMers587777733
SNPshotrs587777733
SNPdbers587777733
MSV3drs587777733
GWAS Ctlgrs587777733
Max Magnitude0
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,