rs387906741

Orientation

plus

Stabilized

plus

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

Make rs387906741(A;C)

Make rs387906741(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

101985975

Gene

DYNC1H1

is a	snp
is	mentioned by
dbSNP	rs387906741
dbSNP (classic)	rs387906741
ClinGen	rs387906741
ebi	rs387906741
HLI	rs387906741
Exac	rs387906741
Gnomad	rs387906741
Varsome	rs387906741
LitVar	rs387906741
Map	rs387906741
PheGenI	rs387906741
Biobank	rs387906741
1000 genomes	rs387906741
hgdp	rs387906741
ensembl	rs387906741
geneview	rs387906741
scholar	rs387906741
google	rs387906741
pharmgkb	rs387906741
gwascentral	rs387906741
openSNP	rs387906741
23andMe	rs387906741
SNPshot	rs387906741
SNPdbe	rs387906741
MSV3d	rs387906741
GWAS Ctlg	rs387906741

Max Magnitude

0

ClinVar
Risk	rs387906741(C;C)
Alt	rs387906741(C;C)
Reference	Rs387906741(A;A)
Significance	Pathogenic
Disease	Spinal muscular atrophy
Variation	info
Gene	DYNC1H1
CLNDBN	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
Reversed	0
HGVS	NC_000014.8:g.102452312A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022932.5,