rs121908571

Orientation

plus

Stabilized

plus

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

Make rs121908571(A;A)

Make rs121908571(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218662620

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs121908571
dbSNP (classic)	rs121908571
ClinGen	rs121908571
ebi	rs121908571
HLI	rs121908571
Exac	rs121908571
Gnomad	rs121908571
Varsome	rs121908571
LitVar	rs121908571
Map	rs121908571
PheGenI	rs121908571
Biobank	rs121908571
1000 genomes	rs121908571
hgdp	rs121908571
ensembl	rs121908571
geneview	rs121908571
scholar	rs121908571
google	rs121908571
pharmgkb	rs121908571
gwascentral	rs121908571
openSNP	rs121908571
23andMe	rs121908571
SNPshot	rs121908571
SNPdbe	rs121908571
MSV3d	rs121908571
GWAS Ctlg	rs121908571

Max Magnitude

0

OMIM	603647
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908571(A;A)
Alt	rs121908571(A;A)
Reference	Rs121908571(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.219527343G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006538.3,