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rs875989847

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs875989847(G;T)
Make rs875989847(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position30607141
GeneGTF2E2
is asnp
is mentioned by
dbSNPrs875989847
ebirs875989847
HLIrs875989847
Exacrs875989847
Varsomers875989847
Maprs875989847
PheGenIrs875989847
hapmaprs875989847
1000 genomesrs875989847
hgdprs875989847
ensemblrs875989847
gopubmedrs875989847
geneviewrs875989847
scholarrs875989847
googlers875989847
pharmgkbrs875989847
gwascentralrs875989847
openSNPrs875989847
23andMers875989847
23andMe allrs875989847
SNP Nexus

SNPshotrs875989847
SNPdbers875989847
MSV3drs875989847
GWAS Ctlgrs875989847
Max Magnitude0
ClinVar
Risk rs875989847(T;T)
Alt rs875989847(T;T)
Reference rs875989847(G;G)
Significance Pathogenic
Disease Trichothiodystrophy 6
Variation info
Gene GTF2E2
CLNDBN Trichothiodystrophy 6, nonphotosensitive
Reversed 1
HGVS NC_000008.10:g.30464658C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000211077.1,