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rs121434364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434364(C;T)
Make rs121434364(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position158192107
GeneGTF2H5
is asnp
is mentioned by
dbSNPrs121434364
ebirs121434364
HLIrs121434364
Exacrs121434364
Varsomers121434364
Maprs121434364
PheGenIrs121434364
hapmaprs121434364
1000 genomesrs121434364
hgdprs121434364
ensemblrs121434364
gopubmedrs121434364
geneviewrs121434364
scholarrs121434364
googlers121434364
pharmgkbrs121434364
gwascentralrs121434364
openSNPrs121434364
23andMers121434364
23andMe allrs121434364
SNP Nexus

SNPshotrs121434364
SNPdbers121434364
MSV3drs121434364
GWAS Ctlgrs121434364
Max Magnitude0
OMIM608780
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434364(T;T)
Alt rs121434364(T;T)
Reference rs121434364(C;C)
Significance Pathogenic
Disease Trichothiodystrophy 1
Variation info
Gene GTF2H5
CLNDBN Trichothiodystrophy 1, photosensitive
Reversed 0
HGVS NC_000006.11:g.158613139C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002184.3,