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rs267608682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608682(C;T)
Make rs267608682(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position77985961
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608682
ebirs267608682
HLIrs267608682
Exacrs267608682
Varsomers267608682
Maprs267608682
PheGenIrs267608682
hapmaprs267608682
1000 genomesrs267608682
hgdprs267608682
ensemblrs267608682
gopubmedrs267608682
geneviewrs267608682
scholarrs267608682
googlers267608682
pharmgkbrs267608682
gwascentralrs267608682
openSNPrs267608682
23andMers267608682
23andMe allrs267608682
SNP Nexus

SNPshotrs267608682
SNPdbers267608682
MSV3drs267608682
GWAS Ctlgrs267608682
Max Magnitude0
ClinVar
Risk rs267608682(T;T)
Alt rs267608682(T;T)
Reference rs267608682(C;C)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79745719G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024145.3,