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rs869320737

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869320737(-;-)
Make rs869320737(-;A)
Make rs869320737(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position74145234
GeneBOLA3
is asnp
is mentioned by
dbSNPrs869320737
ebirs869320737
HLIrs869320737
Exacrs869320737
Varsomers869320737
Maprs869320737
PheGenIrs869320737
hapmaprs869320737
1000 genomesrs869320737
hgdprs869320737
ensemblrs869320737
gopubmedrs869320737
geneviewrs869320737
scholarrs869320737
googlers869320737
pharmgkbrs869320737
gwascentralrs869320737
openSNPrs869320737
23andMers869320737
23andMe allrs869320737
SNP Nexus

SNPshotrs869320737
SNPdbers869320737
MSV3drs869320737
GWAS Ctlgrs869320737
Max Magnitude0
ClinVar
Risk rs869320737(A;A)
Alt rs869320737(A;A)
Reference rs869320737(;)
Significance Pathogenic
Disease Multiple mitochondrial dysfunctions syndrome 2
Variation info
Gene BOLA3
CLNDBN Multiple mitochondrial dysfunctions syndrome 2
Reversed 1
HGVS NC_000002.11:g.74372362dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024012.3,