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rs121434365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434365(C;C)
Make rs121434365(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position158192003
GeneGTF2H5
is asnp
is mentioned by
dbSNPrs121434365
ebirs121434365
HLIrs121434365
Exacrs121434365
Varsomers121434365
Maprs121434365
PheGenIrs121434365
hapmaprs121434365
1000 genomesrs121434365
hgdprs121434365
ensemblrs121434365
gopubmedrs121434365
geneviewrs121434365
scholarrs121434365
googlers121434365
pharmgkbrs121434365
gwascentralrs121434365
openSNPrs121434365
23andMers121434365
23andMe allrs121434365
SNP Nexus

SNPshotrs121434365
SNPdbers121434365
MSV3drs121434365
GWAS Ctlgrs121434365
Max Magnitude0
OMIM608780
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434365(C;C)
Alt rs121434365(C;C)
Reference rs121434365(T;T)
Significance Pathogenic
Disease Trichothiodystrophy 1
Variation info
Gene GTF2H5
CLNDBN Trichothiodystrophy 1, photosensitive
Reversed 0
HGVS NC_000006.11:g.158613035T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002185.3,