rs587780564

Orientation

plus

Stabilized

plus

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

Make rs587780564(C;T)

Make rs587780564(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

101986017

Gene

DYNC1H1

is a	snp
is	mentioned by
dbSNP	rs587780564
dbSNP (classic)	rs587780564
ClinGen	rs587780564
ebi	rs587780564
HLI	rs587780564
Exac	rs587780564
Gnomad	rs587780564
Varsome	rs587780564
LitVar	rs587780564
Map	rs587780564
PheGenI	rs587780564
Biobank	rs587780564
1000 genomes	rs587780564
hgdp	rs587780564
ensembl	rs587780564
geneview	rs587780564
scholar	rs587780564
google	rs587780564
pharmgkb	rs587780564
gwascentral	rs587780564
openSNP	rs587780564
23andMe	rs587780564
SNPshot	rs587780564
SNPdbe	rs587780564
MSV3d	rs587780564
GWAS Ctlg	rs587780564

Max Magnitude

0

ClinVar
Risk	rs587780564(T;T)
Alt	rs587780564(T;T)
Reference	Rs587780564(C;C)
Significance	Pathogenic
Disease	Spinal muscular atrophy Hereditary motor and sensory neuropathy not provided
Variation	info
Gene	DYNC1H1
CLNDBN	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant Hereditary motor and sensory neuropathy not provided
Reversed	0
HGVS	NC_000014.8:g.102452354C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000144249.1, RCV000149555.1, RCV000255067.1,