rs121908575

Orientation

plus

Stabilized

plus

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

Make rs121908575(C;T)

Make rs121908575(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218661120

Gene	BCS1L, ZNF142

is a	snp
is	mentioned by
dbSNP	rs121908575
dbSNP (classic)	rs121908575
ClinGen	rs121908575
ebi	rs121908575
HLI	rs121908575
Exac	rs121908575
Gnomad	rs121908575
Varsome	rs121908575
LitVar	rs121908575
Map	rs121908575
PheGenI	rs121908575
Biobank	rs121908575
1000 genomes	rs121908575
hgdp	rs121908575
ensembl	rs121908575
geneview	rs121908575
scholar	rs121908575
google	rs121908575
pharmgkb	rs121908575
gwascentral	rs121908575
openSNP	rs121908575
23andMe	rs121908575
SNPshot	rs121908575
SNPdbe	rs121908575
MSV3d	rs121908575
GWAS Ctlg	rs121908575

Max Magnitude

0

OMIM	603647
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908575(G;G) rs121908575(T;T)
Alt	rs121908575(G;G) rs121908575(T;T)
Reference	Rs121908575(C;C)
Significance	Pathogenic
Disease	Mitochondrial complex III deficiency
Variation	info
Gene	ZNF142 BCS1L
CLNDBN	Mitochondrial complex III deficiency
Reversed	0
HGVS	NC_000002.11:g.219525843C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006543.4,