rs72466485

Orientation

minus

Stabilized

minus

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

Make rs72466485(A;A)

Make rs72466485(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

74378068

Gene

DCTN1

is a	snp
is	mentioned by
dbSNP	rs72466485
dbSNP (classic)	rs72466485
ClinGen	rs72466485
ebi	rs72466485
HLI	rs72466485
Exac	rs72466485
Gnomad	rs72466485
Varsome	rs72466485
LitVar	rs72466485
Map	rs72466485
PheGenI	rs72466485
Biobank	rs72466485
1000 genomes	rs72466485
hgdp	rs72466485
ensembl	rs72466485
geneview	rs72466485
scholar	rs72466485
google	rs72466485
pharmgkb	rs72466485
gwascentral	rs72466485
openSNP	rs72466485
23andMe	rs72466485
SNPshot	rs72466485
SNPdbe	rs72466485
MSV3d	rs72466485
GWAS Ctlg	rs72466485

Max Magnitude

0

OMIM	601143
Desc
Variant	0006
Related	also

ClinVar
Risk	rs72466485(A;A)
Alt	rs72466485(A;A)
Reference	Rs72466485(G;G)
Significance	Pathogenic
Disease	Perry syndrome
Variation	info
Gene	DCTN1
CLNDBN	Perry syndrome
Reversed	1
HGVS	NC_000002.11:g.74605195C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008914.3,