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rs119479061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119479061(G;T)
Make rs119479061(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46346146
GenePCNT
is asnp
is mentioned by
dbSNPrs119479061
ebirs119479061
HLIrs119479061
Exacrs119479061
Varsomers119479061
Maprs119479061
PheGenIrs119479061
hapmaprs119479061
1000 genomesrs119479061
hgdprs119479061
ensemblrs119479061
gopubmedrs119479061
geneviewrs119479061
scholarrs119479061
googlers119479061
pharmgkbrs119479061
gwascentralrs119479061
openSNPrs119479061
23andMers119479061
23andMe allrs119479061
SNP Nexus

SNPshotrs119479061
SNPdbers119479061
MSV3drs119479061
GWAS Ctlgrs119479061
Max Magnitude0
OMIM605925
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119479061(T;T)
Alt rs119479061(T;T)
Reference rs119479061(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.47766060G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004968.6,