rs1057518739

Orientation

minus

Stabilized

minus

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

Make rs1057518739(G;G)

Make rs1057518739(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23806053

Gene

MIPEP

is a	snp
is	mentioned by
dbSNP	rs1057518739
dbSNP (classic)	rs1057518739
ClinGen	rs1057518739
ebi	rs1057518739
HLI	rs1057518739
Exac	rs1057518739
Gnomad	rs1057518739
Varsome	rs1057518739
LitVar	rs1057518739
Map	rs1057518739
PheGenI	rs1057518739
Biobank	rs1057518739
1000 genomes	rs1057518739
hgdp	rs1057518739
ensembl	rs1057518739
geneview	rs1057518739
scholar	rs1057518739
google	rs1057518739
pharmgkb	rs1057518739
gwascentral	rs1057518739
openSNP	rs1057518739
23andMe	rs1057518739
SNPshot	rs1057518739
SNPdbe	rs1057518739
MSV3d	rs1057518739
GWAS Ctlg	rs1057518739

Max Magnitude

0

ClinVar
Risk	rs1057518739(G;G)
Alt	rs1057518739(G;G)
Reference	Rs1057518739(T;T)
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.24380192A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412562.1,