rs769975073

Orientation

plus

Stabilized

plus

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

Make rs769975073(A;A)

Make rs769975073(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

43794508

Gene

DYNC2LI1

is a	snp
is	mentioned by
dbSNP	rs769975073
dbSNP (classic)	rs769975073
ClinGen	rs769975073
ebi	rs769975073
HLI	rs769975073
Exac	rs769975073
Gnomad	rs769975073
Varsome	rs769975073
LitVar	rs769975073
Map	rs769975073
PheGenI	rs769975073
Biobank	rs769975073
1000 genomes	rs769975073
hgdp	rs769975073
ensembl	rs769975073
geneview	rs769975073
scholar	rs769975073
google	rs769975073
pharmgkb	rs769975073
gwascentral	rs769975073
openSNP	rs769975073
23andMe	rs769975073
SNPshot	rs769975073
SNPdbe	rs769975073
MSV3d	rs769975073
GWAS Ctlg	rs769975073

Max Magnitude

0

ClinVar
Risk	rs769975073(A;A)
Alt	rs769975073(A;A)
Reference	Rs769975073(G;G)
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.44021647G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239657.1,