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rs796052127

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796052127(A;A)
Make rs796052127(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position43519782
GenePOLR1C
is asnp
is mentioned by
dbSNPrs796052127
ebirs796052127
HLIrs796052127
Exacrs796052127
Varsomers796052127
Maprs796052127
PheGenIrs796052127
hapmaprs796052127
1000 genomesrs796052127
hgdprs796052127
ensemblrs796052127
gopubmedrs796052127
geneviewrs796052127
scholarrs796052127
googlers796052127
pharmgkbrs796052127
gwascentralrs796052127
openSNPrs796052127
23andMers796052127
23andMe allrs796052127
SNP Nexus

SNPshotrs796052127
SNPdbers796052127
MSV3drs796052127
GWAS Ctlgrs796052127
Max Magnitude0
ClinVar
Risk rs796052127(A;A)
Alt rs796052127(A;A)
Reference rs796052127(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene POLR1C
CLNDBN Leukodystrophy, hypomyelinating, 11
Reversed 0
HGVS NC_000006.11:g.43487520G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000186589.2,