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rs797045875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs797045875(-;-)
Make rs797045875(-;AAAG)
Make rs797045875(AAAG;AAAG)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46354021
GenePCNT
is asnp
is mentioned by
dbSNPrs797045875
dbSNP (old)rs797045875
ClinGenrs797045875
ebirs797045875
HLIrs797045875
Exacrs797045875
Gnomadrs797045875
Varsomers797045875
Maprs797045875
PheGenIrs797045875
Biobankrs797045875
1000 genomesrs797045875
hgdprs797045875
ensemblrs797045875
gopubmedrs797045875
geneviewrs797045875
scholarrs797045875
googlers797045875
pharmgkbrs797045875
gwascentralrs797045875
openSNPrs797045875
23andMers797045875
23andMe allrs797045875
SNP Nexus

SNPshotrs797045875
SNPdbers797045875
MSV3drs797045875
GWAS Ctlgrs797045875
Max Magnitude0
ClinVar
Risk rs797045875(-;-)
Alt rs797045875(-;-)
Reference Rs797045875(AGAA;AGAA)
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.47773935_47773938delAAAG
CLNSRC
CLNACC RCV000193825.1,