rs745930390

Orientation

plus

Stabilized

plus

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

Make rs745930390(C;T)

Make rs745930390(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

43796760

Gene

DYNC2LI1

is a	snp
is	mentioned by
dbSNP	rs745930390
dbSNP (classic)	rs745930390
ClinGen	rs745930390
ebi	rs745930390
HLI	rs745930390
Exac	rs745930390
Gnomad	rs745930390
Varsome	rs745930390
LitVar	rs745930390
Map	rs745930390
PheGenI	rs745930390
Biobank	rs745930390
1000 genomes	rs745930390
hgdp	rs745930390
ensembl	rs745930390
geneview	rs745930390
scholar	rs745930390
google	rs745930390
pharmgkb	rs745930390
gwascentral	rs745930390
openSNP	rs745930390
23andMe	rs745930390
SNPshot	rs745930390
SNPdbe	rs745930390
MSV3d	rs745930390
GWAS Ctlg	rs745930390

Max Magnitude

0

ClinVar
Risk	rs745930390(G;G) rs745930390(T;T)
Alt	rs745930390(G;G) rs745930390(T;T)
Reference	Rs745930390(C;C)
Significance	Pathogenic
Disease	Short-rib thoracic dysplasia 15 with polydactyly
Variation	info
Gene	DYNC2LI1
CLNDBN	Short-rib thoracic dysplasia 15 with polydactyly
Reversed	0
HGVS	NC_000002.11:g.44023899C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239659.1,