rs121908580

Orientation

plus

Stabilized

plus

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

Make rs121908580(A;G)

Make rs121908580(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218661135

Gene	BCS1L, ZNF142

is a	snp
is	mentioned by
dbSNP	rs121908580
dbSNP (classic)	rs121908580
ClinGen	rs121908580
ebi	rs121908580
HLI	rs121908580
Exac	rs121908580
Gnomad	rs121908580
Varsome	rs121908580
LitVar	rs121908580
Map	rs121908580
PheGenI	rs121908580
Biobank	rs121908580
1000 genomes	rs121908580
hgdp	rs121908580
ensembl	rs121908580
geneview	rs121908580
scholar	rs121908580
google	rs121908580
pharmgkb	rs121908580
gwascentral	rs121908580
openSNP	rs121908580
23andMe	rs121908580
SNPshot	rs121908580
SNPdbe	rs121908580
MSV3d	rs121908580
GWAS Ctlg	rs121908580

Max Magnitude

0

OMIM	603647
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908580(G;G)
Alt	rs121908580(G;G)
Reference	Rs121908580(A;A)
Significance	Pathogenic
Disease	Mitochondrial complex III deficiency
Variation	info
Gene	ZNF142 BCS1L
CLNDBN	Mitochondrial complex III deficiency
Reversed	0
HGVS	NC_000002.11:g.219525858A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006549.5,