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rs11558492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 0
(T;T) 0 common in clinvar
Make rs11558492(C;C)
Make rs11558492(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position231272345
GeneGNPAT
is asnp
is mentioned by
dbSNPrs11558492
dbSNP (old)rs11558492
ClinGenrs11558492
ebirs11558492
HLIrs11558492
Exacrs11558492
Gnomadrs11558492
Varsomers11558492
LitVarrs11558492
Maprs11558492
PheGenIrs11558492
Biobankrs11558492
1000 genomesrs11558492
hgdprs11558492
ensemblrs11558492
gopubmedrs11558492
geneviewrs11558492
scholarrs11558492
googlers11558492
pharmgkbrs11558492
gwascentralrs11558492
openSNPrs11558492
23andMers11558492
23andMe allrs11558492
SNPshotrs11558492
SNPdbers11558492
MSV3drs11558492
GWAS Ctlgrs11558492
GMAF0.1437
Max Magnitude0
? (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.