rs121908573

Orientation

plus

Stabilized

plus

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

Make rs121908573(C;C)

Make rs121908573(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218661762

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs121908573
dbSNP (classic)	rs121908573
ClinGen	rs121908573
ebi	rs121908573
HLI	rs121908573
Exac	rs121908573
Gnomad	rs121908573
Varsome	rs121908573
LitVar	rs121908573
Map	rs121908573
PheGenI	rs121908573
Biobank	rs121908573
1000 genomes	rs121908573
hgdp	rs121908573
ensembl	rs121908573
geneview	rs121908573
scholar	rs121908573
google	rs121908573
pharmgkb	rs121908573
gwascentral	rs121908573
openSNP	rs121908573
23andMe	rs121908573
SNPshot	rs121908573
SNPdbe	rs121908573
MSV3d	rs121908573
GWAS Ctlg	rs121908573

Max Magnitude

0

OMIM	603647
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908573(C;C)
Alt	rs121908573(C;C)
Reference	Rs121908573(G;G)
Significance	Pathogenic
Disease	Mitochondrial complex III deficiency
Variation	info
Gene	BCS1L
CLNDBN	Mitochondrial complex III deficiency
Reversed	0
HGVS	NC_000002.11:g.219526485G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006540.5,