rs1057518776

Orientation

plus

Stabilized

plus

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

Make rs1057518776(A;A)

Make rs1057518776(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

101986027

Gene

DYNC1H1

is a	snp
is	mentioned by
dbSNP	rs1057518776
dbSNP (classic)	rs1057518776
ClinGen	rs1057518776
ebi	rs1057518776
HLI	rs1057518776
Exac	rs1057518776
Gnomad	rs1057518776
Varsome	rs1057518776
LitVar	rs1057518776
Map	rs1057518776
PheGenI	rs1057518776
Biobank	rs1057518776
1000 genomes	rs1057518776
hgdp	rs1057518776
ensembl	rs1057518776
geneview	rs1057518776
scholar	rs1057518776
google	rs1057518776
pharmgkb	rs1057518776
gwascentral	rs1057518776
openSNP	rs1057518776
23andMe	rs1057518776
SNPshot	rs1057518776
SNPdbe	rs1057518776
MSV3d	rs1057518776
GWAS Ctlg	rs1057518776

Max Magnitude

0

ClinVar
Risk	rs1057518776(A;A)
Alt	rs1057518776(A;A)
Reference	Rs1057518776(T;T)
Significance	Probable-Pathogenic
Disease	Global developmental delay Motor delay Muscular hypotonia Polymicrogyria
Variation	info
Gene	DYNC1H1
CLNDBN	Global developmental delay Motor delay Muscular hypotonia Polymicrogyria
Reversed	0
HGVS	NC_000014.8:g.102452364T>A
CLNSRC
CLNACC	RCV000414994.1,