rs137853027

Orientation

plus

Stabilized

plus

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

Make rs137853027(A;G)

Make rs137853027(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

103220720

Gene

DYNC2H1

is a	snp
is	mentioned by
dbSNP	rs137853027
dbSNP (classic)	rs137853027
ClinGen	rs137853027
ebi	rs137853027
HLI	rs137853027
Exac	rs137853027
Gnomad	rs137853027
Varsome	rs137853027
LitVar	rs137853027
Map	rs137853027
PheGenI	rs137853027
Biobank	rs137853027
1000 genomes	rs137853027
hgdp	rs137853027
ensembl	rs137853027
geneview	rs137853027
scholar	rs137853027
google	rs137853027
pharmgkb	rs137853027
gwascentral	rs137853027
openSNP	rs137853027
23andMe	rs137853027
SNPshot	rs137853027
SNPdbe	rs137853027
MSV3d	rs137853027
GWAS Ctlg	rs137853027

Max Magnitude

0

OMIM	603297
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137853027(G;G)
Alt	rs137853027(G;G)
Reference	Rs137853027(A;A)
Significance	Pathogenic
Disease	Short-rib thoracic dysplasia 3 with or without polydactyly not provided Short Rib Polydactyly Syndrome Jeune thoracic dystrophy Bowing of the long bones Intrauterine growth retardation Narrow chest
Variation	info
Gene	DYNC2H1
CLNDBN	Short-rib thoracic dysplasia 3 with or without polydactyly not provided Short Rib Polydactyly Syndrome Jeune thoracic dystrophy Bowing of the long bones Intrauterine growth retardation Narrow chest
Reversed	0
HGVS	NC_000011.9:g.103091449A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006876.3, RCV000224348.1, RCV000292391.1, RCV000386710.1, RCV000415231.1,