rs1057517685

Orientation

minus

Stabilized

minus

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

Make rs1057517685(A;G)

Make rs1057517685(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

60975763

Gene

TRMT5

is a	snp
is	mentioned by
dbSNP	rs1057517685
dbSNP (classic)	rs1057517685
ClinGen	rs1057517685
ebi	rs1057517685
HLI	rs1057517685
Exac	rs1057517685
Gnomad	rs1057517685
Varsome	rs1057517685
LitVar	rs1057517685
Map	rs1057517685
PheGenI	rs1057517685
Biobank	rs1057517685
1000 genomes	rs1057517685
hgdp	rs1057517685
ensembl	rs1057517685
geneview	rs1057517685
scholar	rs1057517685
google	rs1057517685
pharmgkb	rs1057517685
gwascentral	rs1057517685
openSNP	rs1057517685
23andMe	rs1057517685
SNPshot	rs1057517685
SNPdbe	rs1057517685
MSV3d	rs1057517685
GWAS Ctlg	rs1057517685

Max Magnitude

0

ClinVar
Risk	rs1057517685(G;G)
Alt	rs1057517685(G;G)
Reference	Rs1057517685(A;A)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 26
Variation	info
Gene	TRMT5
CLNDBN	Combined oxidative phosphorylation deficiency 26
Reversed	1
HGVS	NC_000014.8:g.61442481T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412548.1,