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rs119479064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119479064(C;T)
Make rs119479064(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46435904
GenePCNT
is asnp
is mentioned by
dbSNPrs119479064
ebirs119479064
HLIrs119479064
Exacrs119479064
Varsomers119479064
Maprs119479064
PheGenIrs119479064
hapmaprs119479064
1000 genomesrs119479064
hgdprs119479064
ensemblrs119479064
gopubmedrs119479064
geneviewrs119479064
scholarrs119479064
googlers119479064
pharmgkbrs119479064
gwascentralrs119479064
openSNPrs119479064
23andMers119479064
23andMe allrs119479064
SNP Nexus

SNPshotrs119479064
SNPdbers119479064
MSV3drs119479064
GWAS Ctlgrs119479064
Max Magnitude0
OMIM605925
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119479064(T;T)
Alt rs119479064(T;T)
Reference rs119479064(C;C)
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.47855817C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004975.3,