rs201948500

Orientation

plus

Stabilized

plus

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

Make rs201948500(C;G)

Make rs201948500(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

43794485

Gene

DYNC2LI1

is a	snp
is	mentioned by
dbSNP	rs201948500
dbSNP (classic)	rs201948500
ClinGen	rs201948500
ebi	rs201948500
HLI	rs201948500
Exac	rs201948500
Gnomad	rs201948500
Varsome	rs201948500
LitVar	rs201948500
Map	rs201948500
PheGenI	rs201948500
Biobank	rs201948500
1000 genomes	rs201948500
hgdp	rs201948500
ensembl	rs201948500
geneview	rs201948500
scholar	rs201948500
google	rs201948500
pharmgkb	rs201948500
gwascentral	rs201948500
openSNP	rs201948500
23andMe	rs201948500
SNPshot	rs201948500
SNPdbe	rs201948500
MSV3d	rs201948500
GWAS Ctlg	rs201948500

Max Magnitude

0

ClinVar
Risk	rs201948500(G;G)
Alt	rs201948500(G;G)
Reference	Rs201948500(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.44021624C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239697.1,