rs1057518741

Orientation

minus

Stabilized

minus

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

Make rs1057518741(A;G)

Make rs1057518741(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23862328

Gene

MIPEP

is a	snp
is	mentioned by
dbSNP	rs1057518741
dbSNP (classic)	rs1057518741
ClinGen	rs1057518741
ebi	rs1057518741
HLI	rs1057518741
Exac	rs1057518741
Gnomad	rs1057518741
Varsome	rs1057518741
LitVar	rs1057518741
Map	rs1057518741
PheGenI	rs1057518741
Biobank	rs1057518741
1000 genomes	rs1057518741
hgdp	rs1057518741
ensembl	rs1057518741
geneview	rs1057518741
scholar	rs1057518741
google	rs1057518741
pharmgkb	rs1057518741
gwascentral	rs1057518741
openSNP	rs1057518741
23andMe	rs1057518741
SNPshot	rs1057518741
SNPdbe	rs1057518741
MSV3d	rs1057518741
GWAS Ctlg	rs1057518741

Max Magnitude

0

ClinVar
Risk	rs1057518741(G;G)
Alt	rs1057518741(G;G)
Reference	Rs1057518741(A;A)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 31
Variation	info
Gene	MIPEP
CLNDBN	Combined oxidative phosphorylation deficiency 31
Reversed	1
HGVS	NC_000013.10:g.24436467T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412622.1,