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rs143492730

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143492730(A;A)
Make rs143492730(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position74145222
GeneBOLA3
is asnp
is mentioned by
dbSNPrs143492730
ebirs143492730
HLIrs143492730
Exacrs143492730
Varsomers143492730
Maprs143492730
PheGenIrs143492730
hapmaprs143492730
1000 genomesrs143492730
hgdprs143492730
ensemblrs143492730
gopubmedrs143492730
geneviewrs143492730
scholarrs143492730
googlers143492730
pharmgkbrs143492730
gwascentralrs143492730
openSNPrs143492730
23andMers143492730
23andMe allrs143492730
SNP Nexus

SNPshotrs143492730
SNPdbers143492730
MSV3drs143492730
GWAS Ctlgrs143492730
Max Magnitude0
ClinVar
Risk rs143492730(A;A)
Alt rs143492730(A;A)
Reference rs143492730(G;G)
Significance Pathogenic
Disease Multiple mitochondrial dysfunctions syndrome 2
Variation info
Gene BOLA3
CLNDBN Multiple mitochondrial dysfunctions syndrome 2
Reversed 0
HGVS NC_000002.11:g.74372349G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210081.1,