rs727505393

Orientation

plus

Stabilized

plus

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

Make rs727505393(G;T)

Make rs727505393(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

101997073

Gene

DYNC1H1

is a	snp
is	mentioned by
dbSNP	rs727505393
dbSNP (classic)	rs727505393
ClinGen	rs727505393
ebi	rs727505393
HLI	rs727505393
Exac	rs727505393
Gnomad	rs727505393
Varsome	rs727505393
LitVar	rs727505393
Map	rs727505393
PheGenI	rs727505393
Biobank	rs727505393
1000 genomes	rs727505393
hgdp	rs727505393
ensembl	rs727505393
geneview	rs727505393
scholar	rs727505393
google	rs727505393
pharmgkb	rs727505393
gwascentral	rs727505393
openSNP	rs727505393
23andMe	rs727505393
SNPshot	rs727505393
SNPdbe	rs727505393
MSV3d	rs727505393
GWAS Ctlg	rs727505393

Max Magnitude

0

ClinVar
Risk	rs727505393(A;A) rs727505393(T;T)
Alt	rs727505393(A;A) rs727505393(T;T)
Reference	Rs727505393(G;G)
Significance	Pathogenic
Disease	Mental retardation Spinal muscular atrophy
Variation	info
Gene	DYNC1H1
CLNDBN	Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
Reversed	0
HGVS	NC_000014.8:g.102463410G>T
CLNSRC
CLNACC	RCV000157064.2,