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rs869312929

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312929(-;-)
Make rs869312929(-;GGCCC)
Make rs869312929(GGCCC;GGCCC)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46388870
GenePCNT
is asnp
is mentioned by
dbSNPrs869312929
ebirs869312929
HLIrs869312929
Exacrs869312929
Varsomers869312929
Maprs869312929
PheGenIrs869312929
hapmaprs869312929
1000 genomesrs869312929
hgdprs869312929
ensemblrs869312929
gopubmedrs869312929
geneviewrs869312929
scholarrs869312929
googlers869312929
pharmgkbrs869312929
gwascentralrs869312929
openSNPrs869312929
23andMers869312929
23andMe allrs869312929
SNP Nexus

SNPshotrs869312929
SNPdbers869312929
MSV3drs869312929
GWAS Ctlgrs869312929
Max Magnitude0
ClinVar
Risk rs869312929(GGCCC;GGCCC)
Alt rs869312929(GGCCC;GGCCC)
Reference rs869312929(;)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene PCNT
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000021.8:g.47808785_47808786insGGCCC
CLNSRC
CLNACC RCV000210709.1,