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rs794729648

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs794729648(-;-)
Make rs794729648(-;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position244855471
GeneHNRNPU
is asnp
is mentioned by
dbSNPrs794729648
ebirs794729648
HLIrs794729648
Exacrs794729648
Varsomers794729648
Maprs794729648
PheGenIrs794729648
hapmaprs794729648
1000 genomesrs794729648
hgdprs794729648
ensemblrs794729648
gopubmedrs794729648
geneviewrs794729648
scholarrs794729648
googlers794729648
pharmgkbrs794729648
gwascentralrs794729648
openSNPrs794729648
23andMers794729648
23andMe allrs794729648
SNP Nexus

SNPshotrs794729648
SNPdbers794729648
MSV3drs794729648
GWAS Ctlgrs794729648
Max Magnitude0
ClinVar
Risk rs794729648(;)
Alt rs794729648(;)
Reference rs794729648(AG;AG)
Significance Pathogenic
Disease Intellectual disability and seizures
Variation info
Gene SNORA100 HNRNPU
CLNDBN Intellectual disability and seizures
Reversed 1
HGVS NC_000001.10:g.245018773_245018774delCT
CLNSRC
CLNACC RCV000185558.2,