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rs267608677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608677(A;A)
Make rs267608677(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position78009519
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608677
ebirs267608677
HLIrs267608677
Exacrs267608677
Varsomers267608677
Maprs267608677
PheGenIrs267608677
hapmaprs267608677
1000 genomesrs267608677
hgdprs267608677
ensemblrs267608677
gopubmedrs267608677
geneviewrs267608677
scholarrs267608677
googlers267608677
pharmgkbrs267608677
gwascentralrs267608677
openSNPrs267608677
23andMers267608677
23andMe allrs267608677
SNP Nexus

SNPshotrs267608677
SNPdbers267608677
MSV3drs267608677
GWAS Ctlgrs267608677
Max Magnitude0
ClinVar
Risk rs267608677(A;A)
Alt rs267608677(A;A)
Reference rs267608677(G;G)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7 not provided
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7 not provided
Reversed 1
HGVS NC_000010.10:g.79769277C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024140.5, RCV000224081.1,