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rs1057519455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519455(C;T)
Make rs1057519455(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position43517324
GenePOLR1C, YIPF3
is asnp
is mentioned by
dbSNPrs1057519455
dbSNP (old)rs1057519455
ClinGenrs1057519455
ebirs1057519455
HLIrs1057519455
Exacrs1057519455
Gnomadrs1057519455
Varsomers1057519455
Maprs1057519455
PheGenIrs1057519455
Biobankrs1057519455
1000 genomesrs1057519455
hgdprs1057519455
ensemblrs1057519455
gopubmedrs1057519455
geneviewrs1057519455
scholarrs1057519455
googlers1057519455
pharmgkbrs1057519455
gwascentralrs1057519455
openSNPrs1057519455
23andMers1057519455
23andMe allrs1057519455
SNPshotrs1057519455
SNPdbers1057519455
MSV3drs1057519455
GWAS Ctlgrs1057519455
Max Magnitude0
ClinVar
Risk rs1057519455(T;T)
Alt rs1057519455(T;T)
Reference Rs1057519455(C;C)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene YIPF3 POLR1C
CLNDBN Leukodystrophy, hypomyelinating, 11
Reversed 0
HGVS NC_000006.11:g.43485062C>T
CLNSRC
CLNACC RCV000416459.1,