Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519456(-;-)
Make rs1057519456(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position43520386
GenePOLR1C
is asnp
is mentioned by
dbSNPrs1057519456
dbSNP (old)rs1057519456
ClinGenrs1057519456
ebirs1057519456
HLIrs1057519456
Exacrs1057519456
Gnomadrs1057519456
Varsomers1057519456
LitVarrs1057519456
Maprs1057519456
PheGenIrs1057519456
Biobankrs1057519456
1000 genomesrs1057519456
hgdprs1057519456
ensemblrs1057519456
gopubmedrs1057519456
geneviewrs1057519456
scholarrs1057519456
googlers1057519456
pharmgkbrs1057519456
gwascentralrs1057519456
openSNPrs1057519456
23andMers1057519456
23andMe allrs1057519456
SNPshotrs1057519456
SNPdbers1057519456
MSV3drs1057519456
GWAS Ctlgrs1057519456
Max Magnitude0
ClinVar
Risk rs1057519456(-;-)
Alt rs1057519456(-;-)
Reference Rs1057519456(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene POLR1C
CLNDBN Leukodystrophy, hypomyelinating, 11
Reversed 0
HGVS NC_000006.11:g.43488124delG
CLNSRC
CLNACC RCV000416417.1,