rs118203917

Orientation

plus

Stabilized

plus

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

Make rs118203917(C;T)

Make rs118203917(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

206774264

Gene

FASTKD2

is a	snp
is	mentioned by
dbSNP	rs118203917
dbSNP (classic)	rs118203917
ClinGen	rs118203917
ebi	rs118203917
HLI	rs118203917
Exac	rs118203917
Gnomad	rs118203917
Varsome	rs118203917
LitVar	rs118203917
Map	rs118203917
PheGenI	rs118203917
Biobank	rs118203917
1000 genomes	rs118203917
hgdp	rs118203917
ensembl	rs118203917
geneview	rs118203917
scholar	rs118203917
google	rs118203917
pharmgkb	rs118203917
gwascentral	rs118203917
openSNP	rs118203917
23andMe	rs118203917
SNPshot	rs118203917
SNPdbe	rs118203917
MSV3d	rs118203917
GWAS Ctlg	rs118203917

Max Magnitude

0

OMIM	612322
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118203917(T;T)
Alt	rs118203917(T;T)
Reference	Rs118203917(C;C)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	FASTKD2
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_000002.11:g.207638988C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000673.5,