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rs41303129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs41303129(C;T)
Make rs41303129(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position226982947
GeneADCK3
is asnp
is mentioned by
dbSNPrs41303129
ebirs41303129
HLIrs41303129
Exacrs41303129
Varsomers41303129
Maprs41303129
PheGenIrs41303129
hapmaprs41303129
1000 genomesrs41303129
hgdprs41303129
ensemblrs41303129
gopubmedrs41303129
geneviewrs41303129
scholarrs41303129
googlers41303129
pharmgkbrs41303129
gwascentralrs41303129
openSNPrs41303129
23andMers41303129
23andMe allrs41303129
SNP Nexus

SNPshotrs41303129
SNPdbers41303129
MSV3drs41303129
GWAS Ctlgrs41303129
Max Magnitude0
ClinVar
Risk rs41303129(T;T)
Alt rs41303129(T;T)
Reference rs41303129(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency not specified
Variation info
Gene ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4 not specified
Reversed 0
HGVS NC_000001.10:g.227170648C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003830.3, RCV000180351.2,