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rs121434440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434440(C;T)
Make rs121434440(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position231265355
GeneGNPAT
is asnp
is mentioned by
dbSNPrs121434440
ebirs121434440
HLIrs121434440
Exacrs121434440
Varsomers121434440
Maprs121434440
PheGenIrs121434440
hapmaprs121434440
1000 genomesrs121434440
hgdprs121434440
ensemblrs121434440
gopubmedrs121434440
geneviewrs121434440
scholarrs121434440
googlers121434440
pharmgkbrs121434440
gwascentralrs121434440
openSNPrs121434440
23andMers121434440
23andMe allrs121434440
SNP Nexus

SNPshotrs121434440
SNPdbers121434440
MSV3drs121434440
GWAS Ctlgrs121434440
Max Magnitude0
OMIM602744
Desc
Variant0002
Relatedalso
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
CLNACC RCV000007244.4,