rs730880255

Orientation

plus

Stabilized

plus

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

Make rs730880255(A;T)

Make rs730880255(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

17338626

Gene

GTPBP3

is a	snp
is	mentioned by
dbSNP	rs730880255
dbSNP (classic)	rs730880255
ClinGen	rs730880255
ebi	rs730880255
HLI	rs730880255
Exac	rs730880255
Gnomad	rs730880255
Varsome	rs730880255
LitVar	rs730880255
Map	rs730880255
PheGenI	rs730880255
Biobank	rs730880255
1000 genomes	rs730880255
hgdp	rs730880255
ensembl	rs730880255
geneview	rs730880255
scholar	rs730880255
google	rs730880255
pharmgkb	rs730880255
gwascentral	rs730880255
openSNP	rs730880255
23andMe	rs730880255
SNPshot	rs730880255
SNPdbe	rs730880255
MSV3d	rs730880255
GWAS Ctlg	rs730880255

Max Magnitude

0

ClinVar
Risk	rs730880255(T;T)
Alt	rs730880255(T;T)
Reference	Rs730880255(A;A)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 23
Variation	info
Gene	GTPBP3
CLNDBN	Combined oxidative phosphorylation deficiency 23
Reversed	0
HGVS	NC_000019.9:g.17449435A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000157592.3,