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rs796052124

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796052124(A;T)
Make rs796052124(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position43517331
GenePOLR1C, YIPF3
is asnp
is mentioned by
dbSNPrs796052124
ebirs796052124
HLIrs796052124
Exacrs796052124
Varsomers796052124
Maprs796052124
PheGenIrs796052124
hapmaprs796052124
1000 genomesrs796052124
hgdprs796052124
ensemblrs796052124
gopubmedrs796052124
geneviewrs796052124
scholarrs796052124
googlers796052124
pharmgkbrs796052124
gwascentralrs796052124
openSNPrs796052124
23andMers796052124
23andMe allrs796052124
SNP Nexus

SNPshotrs796052124
SNPdbers796052124
MSV3drs796052124
GWAS Ctlgrs796052124
Max Magnitude0
ClinVar
Risk rs796052124(T;T)
Alt rs796052124(T;T)
Reference rs796052124(A;A)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene YIPF3 POLR1C
CLNDBN Leukodystrophy, hypomyelinating, 11
Reversed 0
HGVS NC_000006.11:g.43485069A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000186585.2,