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rs796052125

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs796052125(C;C)
Make rs796052125(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position43520119
GenePOLR1C
is asnp
is mentioned by
dbSNPrs796052125
ebirs796052125
HLIrs796052125
Exacrs796052125
Varsomers796052125
Maprs796052125
PheGenIrs796052125
hapmaprs796052125
1000 genomesrs796052125
hgdprs796052125
ensemblrs796052125
gopubmedrs796052125
geneviewrs796052125
scholarrs796052125
googlers796052125
pharmgkbrs796052125
gwascentralrs796052125
openSNPrs796052125
23andMers796052125
23andMe allrs796052125
SNP Nexus

SNPshotrs796052125
SNPdbers796052125
MSV3drs796052125
GWAS Ctlgrs796052125
Max Magnitude0
ClinVar
Risk rs796052125(C;C)
Alt rs796052125(C;C)
Reference rs796052125(T;T)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene POLR1C
CLNDBN Leukodystrophy, hypomyelinating, 11
Reversed 0
HGVS NC_000006.11:g.43487857T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000186586.2,