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rs137853184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853184(A;G)
Make rs137853184(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position95032093
GeneC8orf38
is asnp
is mentioned by
dbSNPrs137853184
ebirs137853184
HLIrs137853184
Exacrs137853184
Varsomers137853184
Maprs137853184
PheGenIrs137853184
hapmaprs137853184
1000 genomesrs137853184
hgdprs137853184
ensemblrs137853184
gopubmedrs137853184
geneviewrs137853184
scholarrs137853184
googlers137853184
pharmgkbrs137853184
gwascentralrs137853184
openSNPrs137853184
23andMers137853184
23andMe allrs137853184
SNP Nexus

SNPshotrs137853184
SNPdbers137853184
MSV3drs137853184
GWAS Ctlgrs137853184
Max Magnitude0
OMIM612392
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853184(G;G)
Alt rs137853184(G;G)
Reference rs137853184(A;A)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene NDUFAF6
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency
Reversed 0
HGVS NC_000008.10:g.96044321A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000577.3,