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rs796052126

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052126(C;T)
Make rs796052126(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position43517313
GenePOLR1C, YIPF3
is asnp
is mentioned by
dbSNPrs796052126
ebirs796052126
HLIrs796052126
Exacrs796052126
Varsomers796052126
Maprs796052126
PheGenIrs796052126
hapmaprs796052126
1000 genomesrs796052126
hgdprs796052126
ensemblrs796052126
gopubmedrs796052126
geneviewrs796052126
scholarrs796052126
googlers796052126
pharmgkbrs796052126
gwascentralrs796052126
openSNPrs796052126
23andMers796052126
23andMe allrs796052126
SNP Nexus

SNPshotrs796052126
SNPdbers796052126
MSV3drs796052126
GWAS Ctlgrs796052126
Max Magnitude0
ClinVar
Risk rs796052126(T;T)
Alt rs796052126(T;T)
Reference rs796052126(C;C)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene YIPF3 POLR1C
CLNDBN Leukodystrophy, hypomyelinating, 11
Reversed 0
HGVS NC_000006.11:g.43485051C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000186588.2,