rs143492730

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs143492730(A;A)

Make rs143492730(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

74145222

Gene

BOLA3

is a	snp
is	mentioned by
dbSNP	rs143492730
dbSNP (classic)	rs143492730
ClinGen	rs143492730
ebi	rs143492730
HLI	rs143492730
Exac	rs143492730
Gnomad	rs143492730
Varsome	rs143492730
LitVar	rs143492730
Map	rs143492730
PheGenI	rs143492730
Biobank	rs143492730
1000 genomes	rs143492730
hgdp	rs143492730
ensembl	rs143492730
geneview	rs143492730
scholar	rs143492730
google	rs143492730
pharmgkb	rs143492730
gwascentral	rs143492730
openSNP	rs143492730
23andMe	rs143492730
SNPshot	rs143492730
SNPdbe	rs143492730
MSV3d	rs143492730
GWAS Ctlg	rs143492730

Max Magnitude

0

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,