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rs869312917

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312917(C;T)
Make rs869312917(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46366702
GenePCNT
is asnp
is mentioned by
dbSNPrs869312917
ebirs869312917
HLIrs869312917
Exacrs869312917
Varsomers869312917
Maprs869312917
PheGenIrs869312917
hapmaprs869312917
1000 genomesrs869312917
hgdprs869312917
ensemblrs869312917
gopubmedrs869312917
geneviewrs869312917
scholarrs869312917
googlers869312917
pharmgkbrs869312917
gwascentralrs869312917
openSNPrs869312917
23andMers869312917
23andMe allrs869312917
SNP Nexus

SNPshotrs869312917
SNPdbers869312917
MSV3drs869312917
GWAS Ctlgrs869312917
Max Magnitude0
ClinVar
Risk rs869312917(T;T)
Alt rs869312917(T;T)
Reference rs869312917(C;C)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene PCNT
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000021.8:g.47786617C>T
CLNSRC
CLNACC RCV000210664.1,