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rs1064797099

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome17
Position60663015
GenePPM1D
is asnp
is mentioned by
dbSNPrs1064797099
dbSNP (old)rs1064797099
ClinGenrs1064797099
ebirs1064797099
HLIrs1064797099
Exacrs1064797099
Gnomadrs1064797099
Varsomers1064797099
Maprs1064797099
PheGenIrs1064797099
Biobankrs1064797099
1000 genomesrs1064797099
hgdprs1064797099
ensemblrs1064797099
gopubmedrs1064797099
geneviewrs1064797099
scholarrs1064797099
googlers1064797099
pharmgkbrs1064797099
gwascentralrs1064797099
openSNPrs1064797099
23andMers1064797099
23andMe allrs1064797099
SNPshotrs1064797099
SNPdbers1064797099
MSV3drs1064797099
GWAS Ctlgrs1064797099
Max Magnitude0
ClinVar
Risk rs1064797099(A;A)
Alt rs1064797099(A;A)
Reference Rs1064797099(G;G)
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.58740376G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000487769.1,