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rs200118797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200118797(C;T)
Make rs200118797(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position77985960
GenePOLR3A
is asnp
is mentioned by
dbSNPrs200118797
ebirs200118797
HLIrs200118797
Exacrs200118797
Varsomers200118797
Maprs200118797
PheGenIrs200118797
hapmaprs200118797
1000 genomesrs200118797
hgdprs200118797
ensemblrs200118797
gopubmedrs200118797
geneviewrs200118797
scholarrs200118797
googlers200118797
pharmgkbrs200118797
gwascentralrs200118797
openSNPrs200118797
23andMers200118797
23andMe allrs200118797
SNP Nexus

SNPshotrs200118797
SNPdbers200118797
MSV3drs200118797
GWAS Ctlgrs200118797
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs200118797(T;T)
Alt rs200118797(T;T)
Reference rs200118797(C;C)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 0
HGVS NC_000010.10:g.79745718C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034146.2,