rs137853028

Orientation

plus

Stabilized

plus

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

Make rs137853028(C;C)

Make rs137853028(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

103155476

Gene

DYNC2H1

is a	snp
is	mentioned by
dbSNP	rs137853028
dbSNP (classic)	rs137853028
ClinGen	rs137853028
ebi	rs137853028
HLI	rs137853028
Exac	rs137853028
Gnomad	rs137853028
Varsome	rs137853028
LitVar	rs137853028
Map	rs137853028
PheGenI	rs137853028
Biobank	rs137853028
1000 genomes	rs137853028
hgdp	rs137853028
ensembl	rs137853028
geneview	rs137853028
scholar	rs137853028
google	rs137853028
pharmgkb	rs137853028
gwascentral	rs137853028
openSNP	rs137853028
23andMe	rs137853028
SNPshot	rs137853028
SNPdbe	rs137853028
MSV3d	rs137853028
GWAS Ctlg	rs137853028

Max Magnitude

0

OMIM	603297
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137853028(C;C)
Alt	rs137853028(C;C)
Reference	Rs137853028(T;T)
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.103026205T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006877.3,