rs121434440

Orientation

plus

Stabilized

plus

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

Make rs121434440(C;T)

Make rs121434440(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

231265355

Gene

GNPAT

is a	snp
is	mentioned by
dbSNP	rs121434440
dbSNP (classic)	rs121434440
ClinGen	rs121434440
ebi	rs121434440
HLI	rs121434440
Exac	rs121434440
Gnomad	rs121434440
Varsome	rs121434440
LitVar	rs121434440
Map	rs121434440
PheGenI	rs121434440
Biobank	rs121434440
1000 genomes	rs121434440
hgdp	rs121434440
ensembl	rs121434440
geneview	rs121434440
scholar	rs121434440
google	rs121434440
pharmgkb	rs121434440
gwascentral	rs121434440
openSNP	rs121434440
23andMe	rs121434440
SNPshot	rs121434440
SNPdbe	rs121434440
MSV3d	rs121434440
GWAS Ctlg	rs121434440

Max Magnitude

0

OMIM	602744
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434440(T;T)
Alt	rs121434440(T;T)
Reference	Rs121434440(C;C)
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.231401101C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007244.4,