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rs1057519443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519443(C;C)
Make rs1057519443(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position201675255
GeneMPP4
is asnp
is mentioned by
dbSNPrs1057519443
dbSNP (old)rs1057519443
ClinGenrs1057519443
ebirs1057519443
HLIrs1057519443
Exacrs1057519443
Gnomadrs1057519443
Varsomers1057519443
Maprs1057519443
PheGenIrs1057519443
Biobankrs1057519443
1000 genomesrs1057519443
hgdprs1057519443
ensemblrs1057519443
gopubmedrs1057519443
geneviewrs1057519443
scholarrs1057519443
googlers1057519443
pharmgkbrs1057519443
gwascentralrs1057519443
openSNPrs1057519443
23andMers1057519443
23andMe allrs1057519443
SNPshotrs1057519443
SNPdbers1057519443
MSV3drs1057519443
GWAS Ctlgrs1057519443
Max Magnitude0
ClinVar
Risk rs1057519443(C;C)
Alt rs1057519443(C;C)
Reference Rs1057519443(T;T)
Significance Pathogenic
Disease Generalized hypotonia Global developmental delay High palate Intellectual disability Seizures Strabismus Wide nasal bridge
Variation info
Gene MPP4
CLNDBN Generalized hypotonia Global developmental delay High palate Intellectual disability Seizures Strabismus Wide nasal bridge
Reversed 1
HGVS NC_000002.11:g.202539978A>G
CLNSRC
CLNACC RCV000416477.1,