rs121434364

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121434364(C;T)

Make rs121434364(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

158192107

Gene

GTF2H5

is a	snp
is	mentioned by
dbSNP	rs121434364
dbSNP (classic)	rs121434364
ClinGen	rs121434364
ebi	rs121434364
HLI	rs121434364
Exac	rs121434364
Gnomad	rs121434364
Varsome	rs121434364
LitVar	rs121434364
Map	rs121434364
PheGenI	rs121434364
Biobank	rs121434364
1000 genomes	rs121434364
hgdp	rs121434364
ensembl	rs121434364
geneview	rs121434364
scholar	rs121434364
google	rs121434364
pharmgkb	rs121434364
gwascentral	rs121434364
openSNP	rs121434364
23andMe	rs121434364
SNPshot	rs121434364
SNPdbe	rs121434364
MSV3d	rs121434364
GWAS Ctlg	rs121434364

Max Magnitude

0

OMIM	608780
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434364(T;T)
Alt	rs121434364(T;T)
Reference	Rs121434364(C;C)
Significance	Pathogenic
Disease	Trichothiodystrophy 1 Trichothiodystrophy 3
Variation	info
Gene	GTF2H5
CLNDBN	Trichothiodystrophy 1, photosensitive Trichothiodystrophy 3, photosensitive
Reversed	0
HGVS	NC_000006.11:g.158613139C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002184.3, RCV000377505.1,