rs397514636

Orientation

plus

Stabilized

plus

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

Make rs397514636(C;T)

Make rs397514636(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

103191565

Gene

DYNC2H1

is a	snp
is	mentioned by
dbSNP	rs397514636
dbSNP (classic)	rs397514636
ClinGen	rs397514636
ebi	rs397514636
HLI	rs397514636
Exac	rs397514636
Gnomad	rs397514636
Varsome	rs397514636
LitVar	rs397514636
Map	rs397514636
PheGenI	rs397514636
Biobank	rs397514636
1000 genomes	rs397514636
hgdp	rs397514636
ensembl	rs397514636
geneview	rs397514636
scholar	rs397514636
google	rs397514636
pharmgkb	rs397514636
gwascentral	rs397514636
openSNP	rs397514636
23andMe	rs397514636
SNPshot	rs397514636
SNPdbe	rs397514636
MSV3d	rs397514636
GWAS Ctlg	rs397514636

Max Magnitude

0

ClinVar
Risk	rs397514636(T;T)
Alt	rs397514636(T;T)
Reference	Rs397514636(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.103062294C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033159.4,