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rs780755978

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs780755978(-;-)
Make rs780755978(-;CTT)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position78025092
GenePOLR3A
is asnp
is mentioned by
dbSNPrs780755978
ClinGenrs780755978
ebirs780755978
HLIrs780755978
Exacrs780755978
Varsomers780755978
Maprs780755978
PheGenIrs780755978
hapmaprs780755978
1000 genomesrs780755978
hgdprs780755978
ensemblrs780755978
gopubmedrs780755978
geneviewrs780755978
scholarrs780755978
googlers780755978
pharmgkbrs780755978
gwascentralrs780755978
openSNPrs780755978
23andMers780755978
23andMe allrs780755978
SNP Nexus

SNPshotrs780755978
SNPdbers780755978
MSV3drs780755978
GWAS Ctlgrs780755978
Max Magnitude0
ClinVar
Risk rs780755978(-;-)
Alt rs780755978(-;-)
Reference Rs780755978(CTT;CTT)
Significance Probable-Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 0
HGVS NC_000010.10:g.79784850_79784852delCTT
CLNSRC
CLNACC RCV000198773.1,