rs387906743

Orientation

plus

Stabilized

plus

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

Make rs387906743(A;G)

Make rs387906743(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

101991567

Gene

DYNC1H1

is a	snp
is	mentioned by
dbSNP	rs387906743
dbSNP (classic)	rs387906743
ClinGen	rs387906743
ebi	rs387906743
HLI	rs387906743
Exac	rs387906743
Gnomad	rs387906743
Varsome	rs387906743
LitVar	rs387906743
Map	rs387906743
PheGenI	rs387906743
Biobank	rs387906743
1000 genomes	rs387906743
hgdp	rs387906743
ensembl	rs387906743
geneview	rs387906743
scholar	rs387906743
google	rs387906743
pharmgkb	rs387906743
gwascentral	rs387906743
openSNP	rs387906743
23andMe	rs387906743
SNPshot	rs387906743
SNPdbe	rs387906743
MSV3d	rs387906743
GWAS Ctlg	rs387906743

Max Magnitude

0

ClinVar
Risk	rs387906743(G;G)
Alt	rs387906743(G;G)
Reference	Rs387906743(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.102457904A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022934.3,