rs1057518740

Orientation

minus

Stabilized

minus

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

Make rs1057518740(A;A)

Make rs1057518740(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23886484

Gene

MIPEP

is a	snp
is	mentioned by
dbSNP	rs1057518740
dbSNP (classic)	rs1057518740
ClinGen	rs1057518740
ebi	rs1057518740
HLI	rs1057518740
Exac	rs1057518740
Gnomad	rs1057518740
Varsome	rs1057518740
LitVar	rs1057518740
Map	rs1057518740
PheGenI	rs1057518740
Biobank	rs1057518740
1000 genomes	rs1057518740
hgdp	rs1057518740
ensembl	rs1057518740
geneview	rs1057518740
scholar	rs1057518740
google	rs1057518740
pharmgkb	rs1057518740
gwascentral	rs1057518740
openSNP	rs1057518740
23andMe	rs1057518740
SNPshot	rs1057518740
SNPdbe	rs1057518740
MSV3d	rs1057518740
GWAS Ctlg	rs1057518740

Max Magnitude

0

ClinVar
Risk	rs1057518740(A;A)
Alt	rs1057518740(A;A)
Reference	Rs1057518740(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.24460623A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412643.1,