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rs121434439

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434439(A;A)
Make rs121434439(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position231265356
GeneGNPAT
is asnp
is mentioned by
dbSNPrs121434439
ebirs121434439
HLIrs121434439
Exacrs121434439
Varsomers121434439
Maprs121434439
PheGenIrs121434439
hapmaprs121434439
1000 genomesrs121434439
hgdprs121434439
ensemblrs121434439
gopubmedrs121434439
geneviewrs121434439
scholarrs121434439
googlers121434439
pharmgkbrs121434439
gwascentralrs121434439
openSNPrs121434439
23andMers121434439
23andMe allrs121434439
SNP Nexus

SNPshotrs121434439
SNPdbers121434439
MSV3drs121434439
GWAS Ctlgrs121434439
Max Magnitude0
OMIM602744
Desc
Variant0001
Relatedalso
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
CLNACC RCV000007243.2,