rs724160003

Orientation

minus

Stabilized

minus

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

Make rs724160003(-;-)

Make rs724160003(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

56993262

Gene

IMPAD1

is a	snp
is	mentioned by
dbSNP	rs724160003
dbSNP (classic)	rs724160003
ClinGen	rs724160003
ebi	rs724160003
HLI	rs724160003
Exac	rs724160003
Gnomad	rs724160003
Varsome	rs724160003
LitVar	rs724160003
Map	rs724160003
PheGenI	rs724160003
Biobank	rs724160003
1000 genomes	rs724160003
hgdp	rs724160003
ensembl	rs724160003
geneview	rs724160003
scholar	rs724160003
google	rs724160003
pharmgkb	rs724160003
gwascentral	rs724160003
openSNP	rs724160003
23andMe	rs724160003
SNPshot	rs724160003
SNPdbe	rs724160003
MSV3d	rs724160003
GWAS Ctlg	rs724160003

Max Magnitude

0

ClinVar
Risk	rs724160003(-;-)
Alt	rs724160003(-;-)
Reference	Rs724160003(C;C)
Significance	Pathogenic
Disease	Chondrodysplasia with joint dislocations
Variation	info
Gene	IMPAD1
CLNDBN	Chondrodysplasia with joint dislocations, GPAPP type
Reversed	1
HGVS	NC_000008.10:g.57905821delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149814.4,