rs72466487

Orientation

minus

Stabilized

minus

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

Make rs72466487(A;C)

Make rs72466487(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

74378058

Gene

DCTN1

is a	snp
is	mentioned by
dbSNP	rs72466487
dbSNP (classic)	rs72466487
ClinGen	rs72466487
ebi	rs72466487
HLI	rs72466487
Exac	rs72466487
Gnomad	rs72466487
Varsome	rs72466487
LitVar	rs72466487
Map	rs72466487
PheGenI	rs72466487
Biobank	rs72466487
1000 genomes	rs72466487
hgdp	rs72466487
ensembl	rs72466487
geneview	rs72466487
scholar	rs72466487
google	rs72466487
pharmgkb	rs72466487
gwascentral	rs72466487
openSNP	rs72466487
23andMe	rs72466487
SNPshot	rs72466487
SNPdbe	rs72466487
MSV3d	rs72466487
GWAS Ctlg	rs72466487

Max Magnitude

0

OMIM	601143
Desc
Variant	0007
Related	also

ClinVar
Risk	rs72466487(C;C) rs72466487(G;G)
Alt	rs72466487(C;C) rs72466487(G;G)
Reference	Rs72466487(A;A)
Significance	Pathogenic
Disease	Perry syndrome
Variation	info
Gene	DCTN1
CLNDBN	Perry syndrome
Reversed	1
HGVS	NC_000002.11:g.74605185T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008915.3,