rs267607111

Orientation

minus

Stabilized

minus

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

Make rs267607111(A;G)

Make rs267607111(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

42839187

Gene

THAP1

is a	snp
is	mentioned by
dbSNP	rs267607111
dbSNP (classic)	rs267607111
ClinGen	rs267607111
ebi	rs267607111
HLI	rs267607111
Exac	rs267607111
Gnomad	rs267607111
Varsome	rs267607111
LitVar	rs267607111
Map	rs267607111
PheGenI	rs267607111
Biobank	rs267607111
1000 genomes	rs267607111
hgdp	rs267607111
ensembl	rs267607111
geneview	rs267607111
scholar	rs267607111
google	rs267607111
pharmgkb	rs267607111
gwascentral	rs267607111
openSNP	rs267607111
23andMe	rs267607111
SNPshot	rs267607111
SNPdbe	rs267607111
MSV3d	rs267607111
GWAS Ctlg	rs267607111

Max Magnitude

0

ClinVar
Risk	rs267607111(G;G)
Alt	rs267607111(G;G)
Reference	Rs267607111(A;A)
Significance	Pathogenic
Disease	Dystonia 6
Variation	info
Gene	THAP1
CLNDBN	Dystonia 6, torsion
Reversed	1
HGVS	NC_000008.10:g.42694330T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001715.2,