rs121434413

Orientation

plus

Stabilized

plus

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

Make rs121434413(C;C)

Make rs121434413(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

177499661

Gene

AGPS

is a	snp
is	mentioned by
dbSNP	rs121434413
dbSNP (classic)	rs121434413
ClinGen	rs121434413
ebi	rs121434413
HLI	rs121434413
Exac	rs121434413
Gnomad	rs121434413
Varsome	rs121434413
LitVar	rs121434413
Map	rs121434413
PheGenI	rs121434413
Biobank	rs121434413
1000 genomes	rs121434413
hgdp	rs121434413
ensembl	rs121434413
geneview	rs121434413
scholar	rs121434413
google	rs121434413
pharmgkb	rs121434413
gwascentral	rs121434413
openSNP	rs121434413
23andMe	rs121434413
SNPshot	rs121434413
SNPdbe	rs121434413
MSV3d	rs121434413
GWAS Ctlg	rs121434413

Max Magnitude

0

OMIM	603051
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434413(C;C)
Alt	rs121434413(C;C)
Reference	Rs121434413(T;T)
Significance	Pathogenic
Disease	Rhizomelic chondrodysplasia punctata type 3
Variation	info
Gene	AGPS
CLNDBN	Rhizomelic chondrodysplasia punctata type 3
Reversed	0
HGVS	NC_000002.11:g.178364389T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007026.2,