rs794727595

Orientation

plus

Stabilized

plus

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

Make rs794727595(-;-)

Make rs794727595(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

103176406

Gene

DYNC2H1

is a	snp
is	mentioned by
dbSNP	rs794727595
dbSNP (classic)	rs794727595
ClinGen	rs794727595
ebi	rs794727595
HLI	rs794727595
Exac	rs794727595
Gnomad	rs794727595
Varsome	rs794727595
LitVar	rs794727595
Map	rs794727595
PheGenI	rs794727595
Biobank	rs794727595
1000 genomes	rs794727595
hgdp	rs794727595
ensembl	rs794727595
geneview	rs794727595
scholar	rs794727595
google	rs794727595
pharmgkb	rs794727595
gwascentral	rs794727595
openSNP	rs794727595
23andMe	rs794727595
SNPshot	rs794727595
SNPdbe	rs794727595
MSV3d	rs794727595
GWAS Ctlg	rs794727595

Max Magnitude

0

ClinVar
Risk	rs794727595(-;-)
Alt	rs794727595(-;-)
Reference	Rs794727595(A;A)
Significance	Pathogenic
Disease	Short-rib thoracic dysplasia 3 with or without polydactyly
Variation	info
Gene	DYNC2H1
CLNDBN	Short-rib thoracic dysplasia 3 with or without polydactyly
Reversed	0
HGVS	NC_000011.9:g.103047135delA
CLNSRC
CLNACC	RCV000177900.1,