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rs119479063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119479063(G;T)
Make rs119479063(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46367083
GenePCNT
is asnp
is mentioned by
dbSNPrs119479063
ebirs119479063
HLIrs119479063
Exacrs119479063
Varsomers119479063
Maprs119479063
PheGenIrs119479063
hapmaprs119479063
1000 genomesrs119479063
hgdprs119479063
ensemblrs119479063
gopubmedrs119479063
geneviewrs119479063
scholarrs119479063
googlers119479063
pharmgkbrs119479063
gwascentralrs119479063
openSNPrs119479063
23andMers119479063
23andMe allrs119479063
SNP Nexus

SNPshotrs119479063
SNPdbers119479063
MSV3drs119479063
GWAS Ctlgrs119479063
Max Magnitude0
OMIM605925
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119479063(A,T;A,T)
Alt rs119479063(A,T;A,T)
Reference rs119479063(G;G)
Significance Pathogenic
Disease Microcephalic osteodysplastic primordial dwarfism type 2
Variation info
Gene PCNT
CLNDBN Microcephalic osteodysplastic primordial dwarfism type 2
Reversed 0
HGVS NC_000021.8:g.47786998G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004973.3,