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rs1064797100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome17
Position60656831
GenePPM1D
is asnp
is mentioned by
dbSNPrs1064797100
dbSNP (old)rs1064797100
ClinGenrs1064797100
ebirs1064797100
HLIrs1064797100
Exacrs1064797100
Gnomadrs1064797100
Varsomers1064797100
Maprs1064797100
PheGenIrs1064797100
Biobankrs1064797100
1000 genomesrs1064797100
hgdprs1064797100
ensemblrs1064797100
gopubmedrs1064797100
geneviewrs1064797100
scholarrs1064797100
googlers1064797100
pharmgkbrs1064797100
gwascentralrs1064797100
openSNPrs1064797100
23andMers1064797100
23andMe allrs1064797100
SNPshotrs1064797100
SNPdbers1064797100
MSV3drs1064797100
GWAS Ctlgrs1064797100
Max Magnitude0
ClinVar
Risk rs1064797100(C;C)
Alt rs1064797100(C;C)
Reference Rs1064797100(-;-)
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.58734192dup
CLNSRC OMIM Allelic Variant
CLNACC RCV000488173.1,