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rs797045879

From SNPedia

Orientationplus
Make rs797045879(-;-)
Make rs797045879(-;AG)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46401697
GenePCNT
is asnp
is mentioned by
dbSNPrs797045879
ebirs797045879
HLIrs797045879
Exacrs797045879
Varsomers797045879
Maprs797045879
PheGenIrs797045879
hapmaprs797045879
1000 genomesrs797045879
hgdprs797045879
ensemblrs797045879
gopubmedrs797045879
geneviewrs797045879
scholarrs797045879
googlers797045879
pharmgkbrs797045879
gwascentralrs797045879
openSNPrs797045879
23andMers797045879
23andMe allrs797045879
SNP Nexus

SNPshotrs797045879
SNPdbers797045879
MSV3drs797045879
GWAS Ctlgrs797045879
Max Magnitude
ClinVar
Risk rs797045879(;)
Alt rs797045879(;)
Reference rs797045879(AG;AG)
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.47821611_47821612delAG
CLNSRC
CLNACC RCV000193571.1,