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rs875989846

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs875989846(C;C)
Make rs875989846(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position30612400
GeneGTF2E2
is asnp
is mentioned by
dbSNPrs875989846
ebirs875989846
HLIrs875989846
Exacrs875989846
Varsomers875989846
Maprs875989846
PheGenIrs875989846
hapmaprs875989846
1000 genomesrs875989846
hgdprs875989846
ensemblrs875989846
gopubmedrs875989846
geneviewrs875989846
scholarrs875989846
googlers875989846
pharmgkbrs875989846
gwascentralrs875989846
openSNPrs875989846
23andMers875989846
23andMe allrs875989846
SNP Nexus

SNPshotrs875989846
SNPdbers875989846
MSV3drs875989846
GWAS Ctlgrs875989846
Max Magnitude0
ClinVar
Risk rs875989846(C;C)
Alt rs875989846(C;C)
Reference rs875989846(G;G)
Significance Pathogenic
Disease Trichothiodystrophy 6
Variation info
Gene GTF2E2
CLNDBN Trichothiodystrophy 6, nonphotosensitive
Reversed 1
HGVS NC_000008.10:g.30469917C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000211060.1,