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rs531254130

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs531254130(A;C)
Make rs531254130(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position13785223
GeneESF1, NDUFAF5
is asnp
is mentioned by
dbSNPrs531254130
ebirs531254130
HLIrs531254130
Exacrs531254130
Varsomers531254130
Maprs531254130
PheGenIrs531254130
hapmaprs531254130
1000 genomesrs531254130
hgdprs531254130
ensemblrs531254130
gopubmedrs531254130
geneviewrs531254130
scholarrs531254130
googlers531254130
pharmgkbrs531254130
gwascentralrs531254130
openSNPrs531254130
23andMers531254130
23andMe allrs531254130
SNP Nexus

SNPshotrs531254130
SNPdbers531254130
MSV3drs531254130
GWAS Ctlgrs531254130
Max Magnitude0
ClinVar
Risk rs531254130(C;C)
Alt rs531254130(C;C)
Reference rs531254130(A;A)
Significance Probable-Pathogenic
Disease Inborn genetic diseases
Variation info
Gene NDUFAF5 ESF1
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000020.10:g.13765869A>C
CLNSRC
CLNACC RCV000210596.1,