rs374356079

Orientation

plus

Stabilized

plus

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

Make rs374356079(A;A)

Make rs374356079(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

43805247

Gene

DYNC2LI1

is a	snp
is	mentioned by
dbSNP	rs374356079
dbSNP (classic)	rs374356079
ClinGen	rs374356079
ebi	rs374356079
HLI	rs374356079
Exac	rs374356079
Gnomad	rs374356079
Varsome	rs374356079
LitVar	rs374356079
Map	rs374356079
PheGenI	rs374356079
Biobank	rs374356079
1000 genomes	rs374356079
hgdp	rs374356079
ensembl	rs374356079
geneview	rs374356079
scholar	rs374356079
google	rs374356079
pharmgkb	rs374356079
gwascentral	rs374356079
openSNP	rs374356079
23andMe	rs374356079
SNPshot	rs374356079
SNPdbe	rs374356079
MSV3d	rs374356079
GWAS Ctlg	rs374356079

Max Magnitude

0

ClinVar
Risk	rs374356079(A;A)
Alt	rs374356079(A;A)
Reference	Rs374356079(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.44032386G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239722.2,