rs67586389

Orientation

minus

Stabilized

minus

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

Make rs67586389(A;A)

Make rs67586389(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

74378067

Gene

DCTN1

is a	snp
is	mentioned by
dbSNP	rs67586389
dbSNP (classic)	rs67586389
ClinGen	rs67586389
ebi	rs67586389
HLI	rs67586389
Exac	rs67586389
Gnomad	rs67586389
Varsome	rs67586389
LitVar	rs67586389
Map	rs67586389
PheGenI	rs67586389
Biobank	rs67586389
1000 genomes	rs67586389
hgdp	rs67586389
ensembl	rs67586389
geneview	rs67586389
scholar	rs67586389
google	rs67586389
pharmgkb	rs67586389
gwascentral	rs67586389
openSNP	rs67586389
23andMe	rs67586389
SNPshot	rs67586389
SNPdbe	rs67586389
MSV3d	rs67586389
GWAS Ctlg	rs67586389

Max Magnitude

0

ClinVar
Risk	rs67586389(A;A) rs67586389(C;C)
Alt	rs67586389(A;A) rs67586389(C;C)
Reference	Rs67586389(G;G)
Significance	Pathogenic
Disease	Perry syndrome
Variation	info
Gene	DCTN1
CLNDBN	Perry syndrome
Reversed	1
HGVS	NC_000002.11:g.74605194C>G; NC_000002.11:g.74605194C>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000020577.1, RCV000020576.3,