rs119455950

Orientation

plus

Stabilized

plus

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

Make rs119455950(A;A)

Make rs119455950(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

31644800

Gene

COX4I2

is a	snp
is	mentioned by
dbSNP	rs119455950
dbSNP (classic)	rs119455950
ClinGen	rs119455950
ebi	rs119455950
HLI	rs119455950
Exac	rs119455950
Gnomad	rs119455950
Varsome	rs119455950
LitVar	rs119455950
Map	rs119455950
PheGenI	rs119455950
Biobank	rs119455950
1000 genomes	rs119455950
hgdp	rs119455950
ensembl	rs119455950
geneview	rs119455950
scholar	rs119455950
google	rs119455950
pharmgkb	rs119455950
gwascentral	rs119455950
openSNP	rs119455950
23andMe	rs119455950
SNPshot	rs119455950
SNPdbe	rs119455950
MSV3d	rs119455950
GWAS Ctlg	rs119455950

GMAF

0.0009183

Max Magnitude

0

OMIM	607976
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119455950(A;A) rs119455950(T;T)
Alt	rs119455950(A;A) rs119455950(T;T)
Reference	Rs119455950(G;G)
Significance	Pathogenic
Disease	Exocrine pancreatic insufficiency not specified
Variation	info
Gene	COX4I2
CLNDBN	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis not specified
Reversed	0
HGVS	NC_000020.10:g.30232603G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002774.2, RCV000284879.1,