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rs869312927

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312927(C;C)
Make rs869312927(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position41525309
GeneACO2, POLR3H
is asnp
is mentioned by
dbSNPrs869312927
ebirs869312927
HLIrs869312927
Exacrs869312927
Varsomers869312927
Maprs869312927
PheGenIrs869312927
hapmaprs869312927
1000 genomesrs869312927
hgdprs869312927
ensemblrs869312927
gopubmedrs869312927
geneviewrs869312927
scholarrs869312927
googlers869312927
pharmgkbrs869312927
gwascentralrs869312927
openSNPrs869312927
23andMers869312927
23andMe allrs869312927
SNP Nexus

SNPshotrs869312927
SNPdbers869312927
MSV3drs869312927
GWAS Ctlgrs869312927
Max Magnitude0
ClinVar
Risk rs869312927(C;C)
Alt rs869312927(C;C)
Reference rs869312927(G;G)
Significance Probable-Pathogenic
Disease Inborn genetic diseases
Variation info
Gene ACO2 POLR3H
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000022.10:g.41921313G>C
CLNSRC
CLNACC RCV000210632.1,