Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882229

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882229(G;T)
Make rs730882229(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position47411889
GenePTPN23
is asnp
is mentioned by
dbSNPrs730882229
ebirs730882229
HLIrs730882229
Exacrs730882229
Varsomers730882229
Maprs730882229
PheGenIrs730882229
hapmaprs730882229
1000 genomesrs730882229
hgdprs730882229
ensemblrs730882229
gopubmedrs730882229
geneviewrs730882229
scholarrs730882229
googlers730882229
pharmgkbrs730882229
gwascentralrs730882229
openSNPrs730882229
23andMers730882229
23andMe allrs730882229
SNP Nexus

SNPshotrs730882229
SNPdbers730882229
MSV3drs730882229
GWAS Ctlgrs730882229
Max Magnitude0
ClinVar
Risk rs730882229(T;T)
Alt rs730882229(T;T)
Reference rs730882229(G;G)
Significance Probable-Pathogenic
Disease Brain atrophy Global developmental delay Seizures
Variation info
Gene PTPN23
CLNDBN Brain atrophy Global developmental delay Seizures
Reversed 0
HGVS NC_000003.11:g.47453379G>T
CLNSRC
CLNACC RCV000162148.1,