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rs797045895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs797045895(-;-)
Make rs797045895(-;CTT)
Make rs797045895(CTT;CTT)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position106432465
GenePOLR3B
is asnp
is mentioned by
dbSNPrs797045895
dbSNP (old)rs797045895
ClinGenrs797045895
ebirs797045895
HLIrs797045895
Exacrs797045895
Varsomers797045895
Maprs797045895
PheGenIrs797045895
Biobankrs797045895
1000 genomesrs797045895
hgdprs797045895
ensemblrs797045895
gopubmedrs797045895
geneviewrs797045895
scholarrs797045895
googlers797045895
pharmgkbrs797045895
gwascentralrs797045895
openSNPrs797045895
23andMers797045895
23andMe allrs797045895
SNP Nexus

SNPshotrs797045895
SNPdbers797045895
MSV3drs797045895
GWAS Ctlgrs797045895
Max Magnitude0
ClinVar
Risk rs797045895(-;-)
Alt rs797045895(-;-)
Reference Rs797045895(TTC;TTC)
Significance Probable-Pathogenic
Disease Hypomyelinating leukodystrophy 8
Variation info
Gene POLR3B
CLNDBN Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Reversed 0
HGVS NC_000012.11:g.106826243_106826245delCTT
CLNSRC
CLNACC RCV000195224.1,