rs137853031

Orientation

plus

Stabilized

plus

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

Make rs137853031(A;A)

Make rs137853031(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

103185032

Gene

DYNC2H1

is a	snp
is	mentioned by
dbSNP	rs137853031
dbSNP (classic)	rs137853031
ClinGen	rs137853031
ebi	rs137853031
HLI	rs137853031
Exac	rs137853031
Gnomad	rs137853031
Varsome	rs137853031
LitVar	rs137853031
Map	rs137853031
PheGenI	rs137853031
Biobank	rs137853031
1000 genomes	rs137853031
hgdp	rs137853031
ensembl	rs137853031
geneview	rs137853031
scholar	rs137853031
google	rs137853031
pharmgkb	rs137853031
gwascentral	rs137853031
openSNP	rs137853031
23andMe	rs137853031
SNPshot	rs137853031
SNPdbe	rs137853031
MSV3d	rs137853031
GWAS Ctlg	rs137853031

Max Magnitude

0

OMIM	603297
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137853031(A;A)
Alt	rs137853031(A;A)
Reference	Rs137853031(G;G)
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.103055761G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006880.3,