rs144972972

Orientation

plus

Stabilized

plus

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

Make rs144972972(C;C)

Make rs144972972(C;T)

Reference

GRCh38 38.1/142

Chromosome

6

Position

151430154

Gene

RMND1

is a	snp
is	mentioned by
dbSNP	rs144972972
dbSNP (classic)	rs144972972
ClinGen	rs144972972
ebi	rs144972972
HLI	rs144972972
Exac	rs144972972
Gnomad	rs144972972
Varsome	rs144972972
LitVar	rs144972972
Map	rs144972972
PheGenI	rs144972972
Biobank	rs144972972
1000 genomes	rs144972972
hgdp	rs144972972
ensembl	rs144972972
geneview	rs144972972
scholar	rs144972972
google	rs144972972
pharmgkb	rs144972972
gwascentral	rs144972972
openSNP	rs144972972
23andMe	rs144972972
SNPshot	rs144972972
SNPdbe	rs144972972
MSV3d	rs144972972
GWAS Ctlg	rs144972972

Max Magnitude

0

ClinVar
Risk	rs144972972(C;C)
Alt	rs144972972(C;C)
Reference	Rs144972972(T;T)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 11 Mitochondrial diseases not provided
Variation	info
Gene	RMND1
CLNDBN	Combined oxidative phosphorylation deficiency 11 Mitochondrial diseases not provided
Reversed	0
HGVS	NC_000006.11:g.151751289T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149406.1, RCV000240809.1, RCV000356860.1, RCV000415572.1,