rs753472937

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTC;CTC)	0	common in clinvar
(I;I)	0	common genotype

Make rs753472937(-;-)

Make rs753472937(-;CTC)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

110683055

Gene

CARS2

is a	snp
is	mentioned by
dbSNP	rs753472937
dbSNP (classic)	rs753472937
ClinGen	rs753472937
ebi	rs753472937
HLI	rs753472937
Exac	rs753472937
Gnomad	rs753472937
Varsome	rs753472937
LitVar	rs753472937
Map	rs753472937
PheGenI	rs753472937
Biobank	rs753472937
1000 genomes	rs753472937
hgdp	rs753472937
ensembl	rs753472937
geneview	rs753472937
scholar	rs753472937
google	rs753472937
pharmgkb	rs753472937
gwascentral	rs753472937
openSNP	rs753472937
23andMe	rs753472937
SNPshot	rs753472937
SNPdbe	rs753472937
MSV3d	rs753472937
GWAS Ctlg	rs753472937

Max Magnitude

0

ClinVar
Risk	rs753472937(-;-)
Alt	rs753472937(-;-)
Reference	Rs753472937(CTC;CTC)
Significance	Pathogenic
Disease	Alpers encephalopathy Combined oxidative phosphorylation deficiency 27
Variation	info
Gene	CARS2
CLNDBN	Alpers encephalopathy Combined oxidative phosphorylation deficiency 27
Reversed	0
HGVS	NC_000013.10:g.111335402_111335404delCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000170338.1, RCV000202402.1,