rs121434412

Orientation

plus

Stabilized

plus

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

Make rs121434412(C;T)

Make rs121434412(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

177461948

Gene

AGPS

is a	snp
is	mentioned by
dbSNP	rs121434412
dbSNP (classic)	rs121434412
ClinGen	rs121434412
ebi	rs121434412
HLI	rs121434412
Exac	rs121434412
Gnomad	rs121434412
Varsome	rs121434412
LitVar	rs121434412
Map	rs121434412
PheGenI	rs121434412
Biobank	rs121434412
1000 genomes	rs121434412
hgdp	rs121434412
ensembl	rs121434412
geneview	rs121434412
scholar	rs121434412
google	rs121434412
pharmgkb	rs121434412
gwascentral	rs121434412
openSNP	rs121434412
23andMe	rs121434412
SNPshot	rs121434412
SNPdbe	rs121434412
MSV3d	rs121434412
GWAS Ctlg	rs121434412

Max Magnitude

0

OMIM	603051
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434412(T;T)
Alt	rs121434412(T;T)
Reference	Rs121434412(C;C)
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.178326676C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007025.2,