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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
ebirs11558492
HLIrs11558492
Exacrs11558492
Varsomers11558492
Maprs11558492
PheGenIrs11558492
hapmaprs11558492
1000 genomesrs11558492
hgdprs11558492
ensemblrs11558492
gopubmedrs11558492
geneviewrs11558492
scholarrs11558492
googlers11558492
pharmgkbrs11558492
gwascentralrs11558492
openSNPrs11558492
23andMers11558492
23andMe allrs11558492
SNP Nexus

SNPshotrs11558492
SNPdbers11558492
MSV3drs11558492
GWAS Ctlgrs11558492
GMAF0.1437
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene GNPAT
allele G
frequency 0.142
sift TOLERATED
HuRef 1103675361487
Disease Association Defects in GNPAT are the cause of rhizomelic chondrodysplasia punctata, type 2 (RCDP2) (MIM:222765); an autosomal recessive disease characterized by rhizomelic shortening of the upper extremities, severe growth and mental retardation and cataract.



GET Evidence
GNPAT-D519G
aa_change Asp519Gly
aa_change_short D519G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.168154
summary



ClinVar
Risk rs11558492(A,C;A,C)
Alt rs11558492(A,C;A,C)
Reference rs11558492(T;T)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 2
Variation info
Gene GNPAT
CLNDBN Rhizomelic chondrodysplasia punctata type 2
Reversed 1
HGVS NC_000001.10:g.231408091A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000029140.3,