rs786205870

Orientation

minus

Stabilized

minus

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

Make rs786205870(A;A)

Make rs786205870(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

237344358

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs786205870
dbSNP (classic)	rs786205870
ClinGen	rs786205870
ebi	rs786205870
HLI	rs786205870
Exac	rs786205870
Gnomad	rs786205870
Varsome	rs786205870
LitVar	rs786205870
Map	rs786205870
PheGenI	rs786205870
Biobank	rs786205870
1000 genomes	rs786205870
hgdp	rs786205870
ensembl	rs786205870
geneview	rs786205870
scholar	rs786205870
google	rs786205870
pharmgkb	rs786205870
gwascentral	rs786205870
openSNP	rs786205870
23andMe	rs786205870
SNPshot	rs786205870
SNPdbe	rs786205870
MSV3d	rs786205870
GWAS Ctlg	rs786205870

Max Magnitude

0

ClinVar
Risk	rs786205870(A;A)
Alt	rs786205870(A;A)
Reference	Rs786205870(G;G)
Significance	Pathogenic
Disease	Dystonia 27
Variation	info
Gene	COL6A3
CLNDBN	Dystonia 27
Reversed	1
HGVS	NC_000002.11:g.238253001C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000172848.2,