rs121434411

Orientation

plus

Stabilized

plus

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

Make rs121434411(A;A)

Make rs121434411(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

177493170

Gene

AGPS

is a	snp
is	mentioned by
dbSNP	rs121434411
dbSNP (classic)	rs121434411
ClinGen	rs121434411
ebi	rs121434411
HLI	rs121434411
Exac	rs121434411
Gnomad	rs121434411
Varsome	rs121434411
LitVar	rs121434411
Map	rs121434411
PheGenI	rs121434411
Biobank	rs121434411
1000 genomes	rs121434411
hgdp	rs121434411
ensembl	rs121434411
geneview	rs121434411
scholar	rs121434411
google	rs121434411
pharmgkb	rs121434411
gwascentral	rs121434411
openSNP	rs121434411
23andMe	rs121434411
SNPshot	rs121434411
SNPdbe	rs121434411
MSV3d	rs121434411
GWAS Ctlg	rs121434411

Max Magnitude

0

OMIM	603051
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434411(A;A)
Alt	rs121434411(A;A)
Reference	Rs121434411(G;G)
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.178357898G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007024.2,