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rs751459271

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs751459271(A;G)
Make rs751459271(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position106504155
GeneLOC100287944, POLR3B
is asnp
is mentioned by
dbSNPrs751459271
ebirs751459271
HLIrs751459271
Exacrs751459271
Varsomers751459271
Maprs751459271
PheGenIrs751459271
hapmaprs751459271
1000 genomesrs751459271
hgdprs751459271
ensemblrs751459271
gopubmedrs751459271
geneviewrs751459271
scholarrs751459271
googlers751459271
pharmgkbrs751459271
gwascentralrs751459271
openSNPrs751459271
23andMers751459271
23andMe allrs751459271
SNP Nexus

SNPshotrs751459271
SNPdbers751459271
MSV3drs751459271
GWAS Ctlgrs751459271
Max Magnitude0
ClinVar
Risk rs751459271(G;G)
Alt rs751459271(G;G)
Reference rs751459271(A;A)
Significance Probable-Pathogenic
Disease Hypomyelinating leukodystrophy 8
Variation info
Gene LOC100287944 POLR3B
CLNDBN Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Reversed 0
HGVS NC_000012.11:g.106897933A>G
CLNSRC
CLNACC RCV000193260.1,