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rs267608689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608689(C;G)
Make rs267608689(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position106496119
GenePOLR3B, RPL23P10
is asnp
is mentioned by
dbSNPrs267608689
ebirs267608689
HLIrs267608689
Exacrs267608689
Varsomers267608689
Maprs267608689
PheGenIrs267608689
hapmaprs267608689
1000 genomesrs267608689
hgdprs267608689
ensemblrs267608689
gopubmedrs267608689
geneviewrs267608689
scholarrs267608689
googlers267608689
pharmgkbrs267608689
gwascentralrs267608689
openSNPrs267608689
23andMers267608689
23andMe allrs267608689
SNP Nexus

SNPshotrs267608689
SNPdbers267608689
MSV3drs267608689
GWAS Ctlgrs267608689
Max Magnitude0
ClinVar
Risk rs267608689(G;G)
Alt rs267608689(G;G)
Reference rs267608689(C;C)
Significance 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.106889897C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024159.3,