rs431905500

Orientation

plus

Stabilized

plus

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

Make rs431905500(-;-)

Make rs431905500(-;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

103253351

Gene

DYNC2H1

is a	snp
is	mentioned by
dbSNP	rs431905500
dbSNP (classic)	rs431905500
ClinGen	rs431905500
ebi	rs431905500
HLI	rs431905500
Exac	rs431905500
Gnomad	rs431905500
Varsome	rs431905500
LitVar	rs431905500
Map	rs431905500
PheGenI	rs431905500
Biobank	rs431905500
1000 genomes	rs431905500
hgdp	rs431905500
ensembl	rs431905500
geneview	rs431905500
scholar	rs431905500
google	rs431905500
pharmgkb	rs431905500
gwascentral	rs431905500
openSNP	rs431905500
23andMe	rs431905500
SNPshot	rs431905500
SNPdbe	rs431905500
MSV3d	rs431905500
GWAS Ctlg	rs431905500

Max Magnitude

0

ClinVar
Risk	rs431905500(-;-)
Alt	rs431905500(-;-)
Reference	Rs431905500(T;T)
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.103124080delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006887.5,