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rs730882240

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882240(C;T)
Make rs730882240(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position574693
GenePIGQ
is asnp
is mentioned by
dbSNPrs730882240
ebirs730882240
HLIrs730882240
Exacrs730882240
Varsomers730882240
Maprs730882240
PheGenIrs730882240
hapmaprs730882240
1000 genomesrs730882240
hgdprs730882240
ensemblrs730882240
gopubmedrs730882240
geneviewrs730882240
scholarrs730882240
googlers730882240
pharmgkbrs730882240
gwascentralrs730882240
openSNPrs730882240
23andMers730882240
23andMe allrs730882240
SNP Nexus

SNPshotrs730882240
SNPdbers730882240
MSV3drs730882240
GWAS Ctlgrs730882240
Max Magnitude0
ClinVar
Risk rs730882240(T;T)
Alt rs730882240(T;T)
Reference rs730882240(C;C)
Significance Probable-Pathogenic
Disease Global developmental delay Intractable seizure Optic atrophy
Variation info
Gene PIGQ
CLNDBN Global developmental delay Intractable seizure Optic atrophy
Reversed 0
HGVS NC_000016.9:g.624693C>T
CLNSRC
CLNACC RCV000162174.1,