rs1057516211

Orientation

minus

Stabilized

minus

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

Make rs1057516211(A;G)

Make rs1057516211(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

130133325

Gene	AIFM1, RAB33A

is a	snp
is	mentioned by
dbSNP	rs1057516211
dbSNP (classic)	rs1057516211
ClinGen	rs1057516211
ebi	rs1057516211
HLI	rs1057516211
Exac	rs1057516211
Gnomad	rs1057516211
Varsome	rs1057516211
LitVar	rs1057516211
Map	rs1057516211
PheGenI	rs1057516211
Biobank	rs1057516211
1000 genomes	rs1057516211
hgdp	rs1057516211
ensembl	rs1057516211
geneview	rs1057516211
scholar	rs1057516211
google	rs1057516211
pharmgkb	rs1057516211
gwascentral	rs1057516211
openSNP	rs1057516211
23andMe	rs1057516211
SNPshot	rs1057516211
SNPdbe	rs1057516211
MSV3d	rs1057516211
GWAS Ctlg	rs1057516211

Max Magnitude

0

ClinVar
Risk	rs1057516211(G;G)
Alt	rs1057516211(G;G)
Reference	Rs1057516211(A;A)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 6
Variation	info
Gene	AIFM1
CLNDBN	Combined oxidative phosphorylation deficiency 6
Reversed	1
HGVS	NC_000023.10:g.129267300T>C
CLNSRC
CLNACC	RCV000408758.1,