rs875989847

Orientation

minus

Stabilized

minus

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

Make rs875989847(G;T)

Make rs875989847(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

8

Position

30607141

Gene

GTF2E2

is a	snp
is	mentioned by
dbSNP	rs875989847
dbSNP (classic)	rs875989847
ClinGen	rs875989847
ebi	rs875989847
HLI	rs875989847
Exac	rs875989847
Gnomad	rs875989847
Varsome	rs875989847
LitVar	rs875989847
Map	rs875989847
PheGenI	rs875989847
Biobank	rs875989847
1000 genomes	rs875989847
hgdp	rs875989847
ensembl	rs875989847
geneview	rs875989847
scholar	rs875989847
google	rs875989847
pharmgkb	rs875989847
gwascentral	rs875989847
openSNP	rs875989847
23andMe	rs875989847
SNPshot	rs875989847
SNPdbe	rs875989847
MSV3d	rs875989847
GWAS Ctlg	rs875989847

Max Magnitude

0

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,