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rs118203917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203917(C;T)
Make rs118203917(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position206774264
GeneFASTKD2
is asnp
is mentioned by
dbSNPrs118203917
ebirs118203917
HLIrs118203917
Exacrs118203917
Varsomers118203917
Maprs118203917
PheGenIrs118203917
hapmaprs118203917
1000 genomesrs118203917
hgdprs118203917
ensemblrs118203917
gopubmedrs118203917
geneviewrs118203917
scholarrs118203917
googlers118203917
pharmgkbrs118203917
gwascentralrs118203917
openSNPrs118203917
23andMers118203917
23andMe allrs118203917
SNP Nexus

SNPshotrs118203917
SNPdbers118203917
MSV3drs118203917
GWAS Ctlgrs118203917
Max Magnitude0
OMIM612322
Desc
Variant0001
Relatedalso
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 RCV000000673.4,