rs121908572

Orientation

plus

Stabilized

plus

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

Make rs121908572(C;T)

Make rs121908572(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218661283

Gene	BCS1L, ZNF142

is a	snp
is	mentioned by
dbSNP	rs121908572
dbSNP (classic)	rs121908572
ClinGen	rs121908572
ebi	rs121908572
HLI	rs121908572
Exac	rs121908572
Gnomad	rs121908572
Varsome	rs121908572
LitVar	rs121908572
Map	rs121908572
PheGenI	rs121908572
Biobank	rs121908572
1000 genomes	rs121908572
hgdp	rs121908572
ensembl	rs121908572
geneview	rs121908572
scholar	rs121908572
google	rs121908572
pharmgkb	rs121908572
gwascentral	rs121908572
openSNP	rs121908572
23andMe	rs121908572
SNPshot	rs121908572
SNPdbe	rs121908572
MSV3d	rs121908572
GWAS Ctlg	rs121908572

Max Magnitude

0

OMIM	603647
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908572(T;T)
Alt	rs121908572(T;T)
Reference	Rs121908572(C;C)
Significance	Pathogenic
Disease	Leigh syndrome due to mitochondrial complex III deficiency
Variation	info
Gene	BCS1L ZNF142
CLNDBN	Leigh syndrome due to mitochondrial complex III deficiency
Reversed	0
HGVS	NC_000002.11:g.219526006C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006539.4,