rs121908578

Orientation

plus

Stabilized

plus

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

Make rs121908578(C;T)

Make rs121908578(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218661848

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs121908578
dbSNP (classic)	rs121908578
ClinGen	rs121908578
ebi	rs121908578
HLI	rs121908578
Exac	rs121908578
Gnomad	rs121908578
Varsome	rs121908578
LitVar	rs121908578
Map	rs121908578
PheGenI	rs121908578
Biobank	rs121908578
1000 genomes	rs121908578
hgdp	rs121908578
ensembl	rs121908578
geneview	rs121908578
scholar	rs121908578
google	rs121908578
pharmgkb	rs121908578
gwascentral	rs121908578
openSNP	rs121908578
23andMe	rs121908578
SNPshot	rs121908578
SNPdbe	rs121908578
MSV3d	rs121908578
GWAS Ctlg	rs121908578

Max Magnitude

0

OMIM	603647
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908578(T;T)
Alt	rs121908578(T;T)
Reference	Rs121908578(C;C)
Significance	Pathogenic
Disease	Bjornstad syndrome with mild mitochondrial complex III deficiency Mitochondrial complex III deficiency not provided
Variation	info
Gene	BCS1L
CLNDBN	Bjornstad syndrome with mild mitochondrial complex III deficiency Mitochondrial complex III deficiency not provided
Reversed	0
HGVS	NC_000002.11:g.219526571C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006546.3, RCV000034811.5, RCV000384654.1,