rs199476127

Orientation

plus

Stabilized

plus

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

Make rs199476127(C;C)

Make rs199476127(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

6721

Gene

COX1

is a	snp
is	mentioned by
dbSNP	rs199476127
dbSNP (classic)	rs199476127
ClinGen	rs199476127
ebi	rs199476127
HLI	rs199476127
Exac	rs199476127
Gnomad	rs199476127
Varsome	rs199476127
LitVar	rs199476127
Map	rs199476127
PheGenI	rs199476127
Biobank	rs199476127
1000 genomes	rs199476127
hgdp	rs199476127
ensembl	rs199476127
geneview	rs199476127
scholar	rs199476127
google	rs199476127
pharmgkb	rs199476127
gwascentral	rs199476127
openSNP	rs199476127
23andMe	rs199476127
SNPshot	rs199476127
SNPdbe	rs199476127
MSV3d	rs199476127
GWAS Ctlg	rs199476127

Max Magnitude

0

ClinVar
Risk	rs199476127(C;C)
Alt	rs199476127(C;C)
Reference	Rs199476127(T;T)
Significance	Pathogenic
Disease	Sideroblastic anemia
Variation	info
Gene	COX1
CLNDBN	Sideroblastic anemia, acquired idiopathic
Reversed	0
HGVS	NC_012920.1:m.6721T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010303.2,