rs121908579

Orientation

plus

Stabilized

plus

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

Make rs121908579(C;C)

Make rs121908579(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218661090

Gene	BCS1L, ZNF142

is a	snp
is	mentioned by
dbSNP	rs121908579
dbSNP (classic)	rs121908579
ClinGen	rs121908579
ebi	rs121908579
HLI	rs121908579
Exac	rs121908579
Gnomad	rs121908579
Varsome	rs121908579
LitVar	rs121908579
Map	rs121908579
PheGenI	rs121908579
Biobank	rs121908579
1000 genomes	rs121908579
hgdp	rs121908579
ensembl	rs121908579
geneview	rs121908579
scholar	rs121908579
google	rs121908579
pharmgkb	rs121908579
gwascentral	rs121908579
openSNP	rs121908579
23andMe	rs121908579
SNPshot	rs121908579
SNPdbe	rs121908579
MSV3d	rs121908579
GWAS Ctlg	rs121908579

Max Magnitude

0

OMIM	603647
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121908579(C;C)
Alt	rs121908579(C;C)
Reference	Rs121908579(G;G)
Significance	Pathogenic
Disease	Bjornstad syndrome with mild mitochondrial complex III deficiency
Variation	info
Gene	ZNF142 BCS1L
CLNDBN	Bjornstad syndrome with mild mitochondrial complex III deficiency
Reversed	0
HGVS	NC_000002.11:g.219525813G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006548.2,