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rs374514431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374514431(A;A)
Make rs374514431(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position69400462
GeneNFU1
is asnp
is mentioned by
dbSNPrs374514431
ebirs374514431
HLIrs374514431
Exacrs374514431
Varsomers374514431
Maprs374514431
PheGenIrs374514431
hapmaprs374514431
1000 genomesrs374514431
hgdprs374514431
ensemblrs374514431
gopubmedrs374514431
geneviewrs374514431
scholarrs374514431
googlers374514431
pharmgkbrs374514431
gwascentralrs374514431
openSNPrs374514431
23andMers374514431
23andMe allrs374514431
SNP Nexus

SNPshotrs374514431
SNPdbers374514431
MSV3drs374514431
GWAS Ctlgrs374514431
Max Magnitude0
ClinVar
Risk rs374514431(A;A)
Alt rs374514431(A;A)
Reference rs374514431(C;C)
Significance Pathogenic
Disease Multiple mitochondrial dysfunctions syndrome 1
Variation info
Gene NFU1
CLNDBN Multiple mitochondrial dysfunctions syndrome 1
Reversed 0
HGVS NC_000002.11:g.69627594C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023678.2,