rs875989846

Orientation

minus

Stabilized

minus

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

Make rs875989846(C;C)

Make rs875989846(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

8

Position

30612400

Gene

GTF2E2

is a	snp
is	mentioned by
dbSNP	rs875989846
dbSNP (classic)	rs875989846
ClinGen	rs875989846
ebi	rs875989846
HLI	rs875989846
Exac	rs875989846
Gnomad	rs875989846
Varsome	rs875989846
LitVar	rs875989846
Map	rs875989846
PheGenI	rs875989846
Biobank	rs875989846
1000 genomes	rs875989846
hgdp	rs875989846
ensembl	rs875989846
geneview	rs875989846
scholar	rs875989846
google	rs875989846
pharmgkb	rs875989846
gwascentral	rs875989846
openSNP	rs875989846
23andMe	rs875989846
SNPshot	rs875989846
SNPdbe	rs875989846
MSV3d	rs875989846
GWAS Ctlg	rs875989846

Max Magnitude

0

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,