rs137853030

Orientation

plus

Stabilized

plus

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

Make rs137853030(C;T)

Make rs137853030(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

103125197

Gene

DYNC2H1

is a	snp
is	mentioned by
dbSNP	rs137853030
dbSNP (classic)	rs137853030
ClinGen	rs137853030
ebi	rs137853030
HLI	rs137853030
Exac	rs137853030
Gnomad	rs137853030
Varsome	rs137853030
LitVar	rs137853030
Map	rs137853030
PheGenI	rs137853030
Biobank	rs137853030
1000 genomes	rs137853030
hgdp	rs137853030
ensembl	rs137853030
geneview	rs137853030
scholar	rs137853030
google	rs137853030
pharmgkb	rs137853030
gwascentral	rs137853030
openSNP	rs137853030
23andMe	rs137853030
SNPshot	rs137853030
SNPdbe	rs137853030
MSV3d	rs137853030
GWAS Ctlg	rs137853030

Max Magnitude

0

OMIM	603297
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137853030(T;T)
Alt	rs137853030(T;T)
Reference	Rs137853030(C;C)
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.102995926C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006879.3,