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rs794726863

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726863(A;A)
Make rs794726863(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position119870713
GeneNDUFA1, RNF113A
is asnp
is mentioned by
dbSNPrs794726863
ebirs794726863
HLIrs794726863
Exacrs794726863
Varsomers794726863
Maprs794726863
PheGenIrs794726863
hapmaprs794726863
1000 genomesrs794726863
hgdprs794726863
ensemblrs794726863
gopubmedrs794726863
geneviewrs794726863
scholarrs794726863
googlers794726863
pharmgkbrs794726863
gwascentralrs794726863
openSNPrs794726863
23andMers794726863
23andMe allrs794726863
SNP Nexus

SNPshotrs794726863
SNPdbers794726863
MSV3drs794726863
GWAS Ctlgrs794726863
Max Magnitude0
ClinVar
Risk rs794726863(A;A)
Alt rs794726863(A;A)
Reference rs794726863(G;G)
Significance Pathogenic
Disease Trichothiodystrophy 5
Variation info
Gene RNF113A NDUFA1
CLNDBN Trichothiodystrophy 5, nonphotosensitive
Reversed 0
HGVS NC_000023.10:g.119004676G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000173011.2,