rs72466486

Orientation

minus

Stabilized

minus

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

Make rs72466486(A;C)

Make rs72466486(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

74378065

Gene

DCTN1

is a	snp
is	mentioned by
dbSNP	rs72466486
dbSNP (classic)	rs72466486
ClinGen	rs72466486
ebi	rs72466486
HLI	rs72466486
Exac	rs72466486
Gnomad	rs72466486
Varsome	rs72466486
LitVar	rs72466486
Map	rs72466486
PheGenI	rs72466486
Biobank	rs72466486
1000 genomes	rs72466486
hgdp	rs72466486
ensembl	rs72466486
geneview	rs72466486
scholar	rs72466486
google	rs72466486
pharmgkb	rs72466486
gwascentral	rs72466486
openSNP	rs72466486
23andMe	rs72466486
SNPshot	rs72466486
SNPdbe	rs72466486
MSV3d	rs72466486
GWAS Ctlg	rs72466486

Max Magnitude

0

ClinVar
Risk	rs72466486(C;C)
Alt	rs72466486(C;C)
Reference	Rs72466486(A;A)
Significance	Pathogenic
Disease	Perry syndrome
Variation	info
Gene	DCTN1
CLNDBN	Perry syndrome
Reversed	1
HGVS	NC_000002.11:g.74605192T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020578.1,