rs387906738

Orientation

plus

Stabilized

plus

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

Make rs387906738(A;G)

Make rs387906738(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

101980506

Gene

DYNC1H1

is a	snp
is	mentioned by
dbSNP	rs387906738
dbSNP (classic)	rs387906738
ClinGen	rs387906738
ebi	rs387906738
HLI	rs387906738
Exac	rs387906738
Gnomad	rs387906738
Varsome	rs387906738
LitVar	rs387906738
Map	rs387906738
PheGenI	rs387906738
Biobank	rs387906738
1000 genomes	rs387906738
hgdp	rs387906738
ensembl	rs387906738
geneview	rs387906738
scholar	rs387906738
google	rs387906738
pharmgkb	rs387906738
gwascentral	rs387906738
openSNP	rs387906738
23andMe	rs387906738
SNPshot	rs387906738
SNPdbe	rs387906738
MSV3d	rs387906738
GWAS Ctlg	rs387906738

Max Magnitude

0

ClinVar
Risk	rs387906738(G;G)
Alt	rs387906738(G;G)
Reference	Rs387906738(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Spinal muscular atrophy Charcot-Marie-Tooth disease
Variation	info
Gene	DYNC1H1
CLNDBN	Charcot-Marie-Tooth disease, axonal, type 2O Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant Charcot-Marie-Tooth disease
Reversed	0
HGVS	NC_000014.8:g.102446843A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022929.3, RCV000055662.2, RCV000192255.1,