rs11558492

Orientation

minus

Stabilized

minus

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

Make rs11558492(C;C)

Make rs11558492(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

231272345

Gene

GNPAT

is a	snp
is	mentioned by
dbSNP	rs11558492
dbSNP (classic)	rs11558492
ClinGen	rs11558492
ebi	rs11558492
HLI	rs11558492
Exac	rs11558492
Gnomad	rs11558492
Varsome	rs11558492
LitVar	rs11558492
Map	rs11558492
PheGenI	rs11558492
Biobank	rs11558492
1000 genomes	rs11558492
hgdp	rs11558492
ensembl	rs11558492
geneview	rs11558492
scholar	rs11558492
google	rs11558492
pharmgkb	rs11558492
gwascentral	rs11558492
openSNP	rs11558492
23andMe	rs11558492
SNPshot	rs11558492
SNPdbe	rs11558492
MSV3d	rs11558492
GWAS Ctlg	rs11558492

GMAF

0.1437

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs11558492(A;A) rs11558492(C;C)
Alt	rs11558492(A;A) rs11558492(C;C)
Reference	Rs11558492(T;T)
Significance	Pathogenic
Disease	Rhizomelic chondrodysplasia punctata type 2 not specified Rhizomelic chondrodysplasia punctata
Variation	info
Gene	GNPAT
CLNDBN	Rhizomelic chondrodysplasia punctata type 2 not specified Rhizomelic chondrodysplasia punctata
Reversed	1
HGVS	NC_000001.10:g.231408091A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029140.3, RCV000244403.2, RCV000336769.1,

[PMID 28425416] GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.