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rs1064797098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome17
Position60663004
GenePPM1D
is asnp
is mentioned by
dbSNPrs1064797098
dbSNP (classic)rs1064797098
ClinGenrs1064797098
ebirs1064797098
HLIrs1064797098
Exacrs1064797098
Gnomadrs1064797098
Varsomers1064797098
LitVarrs1064797098
Maprs1064797098
PheGenIrs1064797098
Biobankrs1064797098
1000 genomesrs1064797098
hgdprs1064797098
ensemblrs1064797098
geneviewrs1064797098
scholarrs1064797098
googlers1064797098
pharmgkbrs1064797098
gwascentralrs1064797098
openSNPrs1064797098
23andMers1064797098
SNPshotrs1064797098
SNPdbers1064797098
MSV3drs1064797098
GWAS Ctlgrs1064797098
Max Magnitude0
ClinVar
Risk rs1064797098(G;G)
Alt rs1064797098(G;G)
Reference Rs1064797098(-;-)
Significance Pathogenic
Disease Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Variation info
Gene PPM1D
CLNDBN Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Reversed 0
HGVS NC_000017.10:g.58740365dup
CLNSRC OMIM Allelic Variant
CLNACC RCV000488394.1,