rs587777016

Orientation

plus

Stabilized

plus

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

Make rs587777016(A;C)

Make rs587777016(C;C)

Reference

GRCh38 38.1/142

Chromosome

1

Position

228175383

Gene

IBA57

is a	snp
is	mentioned by
dbSNP	rs587777016
dbSNP (classic)	rs587777016
ClinGen	rs587777016
ebi	rs587777016
HLI	rs587777016
Exac	rs587777016
Gnomad	rs587777016
Varsome	rs587777016
LitVar	rs587777016
Map	rs587777016
PheGenI	rs587777016
Biobank	rs587777016
1000 genomes	rs587777016
hgdp	rs587777016
ensembl	rs587777016
geneview	rs587777016
scholar	rs587777016
google	rs587777016
pharmgkb	rs587777016
gwascentral	rs587777016
openSNP	rs587777016
23andMe	rs587777016
SNPshot	rs587777016
SNPdbe	rs587777016
MSV3d	rs587777016
GWAS Ctlg	rs587777016

Max Magnitude

0

ClinVar
Risk	rs587777016(C;C)
Alt	rs587777016(C;C)
Reference	Rs587777016(A;A)
Significance	Pathogenic
Disease	Multiple mitochondrial dysfunctions syndrome 3
Variation	info
Gene	IBA57
CLNDBN	Multiple mitochondrial dysfunctions syndrome 3
Reversed	0
HGVS	NC_000001.10:g.228363084A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000050221.3,