rs121909342

Orientation

minus

Stabilized

minus

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

Make rs121909342(A;A)

Make rs121909342(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

74378104

Gene

DCTN1

is a	snp
is	mentioned by
dbSNP	rs121909342
dbSNP (classic)	rs121909342
ClinGen	rs121909342
ebi	rs121909342
HLI	rs121909342
Exac	rs121909342
Gnomad	rs121909342
Varsome	rs121909342
LitVar	rs121909342
Map	rs121909342
PheGenI	rs121909342
Biobank	rs121909342
1000 genomes	rs121909342
hgdp	rs121909342
ensembl	rs121909342
geneview	rs121909342
scholar	rs121909342
google	rs121909342
pharmgkb	rs121909342
gwascentral	rs121909342
openSNP	rs121909342
23andMe	rs121909342
SNPshot	rs121909342
SNPdbe	rs121909342
MSV3d	rs121909342
GWAS Ctlg	rs121909342

Max Magnitude

0

OMIM	601143
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909342(A;A)
Alt	rs121909342(A;A)
Reference	Rs121909342(G;G)
Significance	Pathogenic
Disease	Distal hereditary motor neuronopathy type 7B
Variation	info
Gene	DCTN1
CLNDBN	Distal hereditary motor neuronopathy type 7B
Reversed	1
HGVS	NC_000002.11:g.74605231C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008909.3,