rs121434439

Orientation

plus

Stabilized

plus

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

Make rs121434439(A;A)

Make rs121434439(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

231265356

Gene

GNPAT

is a	snp
is	mentioned by
dbSNP	rs121434439
dbSNP (classic)	rs121434439
ClinGen	rs121434439
ebi	rs121434439
HLI	rs121434439
Exac	rs121434439
Gnomad	rs121434439
Varsome	rs121434439
LitVar	rs121434439
Map	rs121434439
PheGenI	rs121434439
Biobank	rs121434439
1000 genomes	rs121434439
hgdp	rs121434439
ensembl	rs121434439
geneview	rs121434439
scholar	rs121434439
google	rs121434439
pharmgkb	rs121434439
gwascentral	rs121434439
openSNP	rs121434439
23andMe	rs121434439
SNPshot	rs121434439
SNPdbe	rs121434439
MSV3d	rs121434439
GWAS Ctlg	rs121434439

Max Magnitude

0

OMIM	602744
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434439(A;A)
Alt	rs121434439(A;A)
Reference	Rs121434439(G;G)
Significance	Pathogenic
Disease	Rhizomelic chondrodysplasia punctata type 2
Variation	info
Gene	GNPAT
CLNDBN	Rhizomelic chondrodysplasia punctata type 2
Reversed	0
HGVS	NC_000001.10:g.231401102G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007243.2,