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rs371802902

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs371802902(A;G)
Make rs371802902(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position43519412
GenePOLR1C
is asnp
is mentioned by
dbSNPrs371802902
dbSNP (classic)rs371802902
ClinGenrs371802902
ebirs371802902
HLIrs371802902
Exacrs371802902
Gnomadrs371802902
Varsomers371802902
LitVarrs371802902
Maprs371802902
PheGenIrs371802902
Biobankrs371802902
1000 genomesrs371802902
hgdprs371802902
ensemblrs371802902
geneviewrs371802902
scholarrs371802902
googlers371802902
pharmgkbrs371802902
gwascentralrs371802902
openSNPrs371802902
23andMers371802902
SNPshotrs371802902
SNPdbers371802902
MSV3drs371802902
GWAS Ctlgrs371802902
Max Magnitude0
ClinVar
Risk rs371802902(G;G)
Alt rs371802902(G;G)
Reference Rs371802902(A;A)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene POLR1C
CLNDBN Leukodystrophy, hypomyelinating, 11
Reversed 0
HGVS NC_000006.11:g.43487150A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000186584.3,