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rs869025579

From SNPedia

Orientationminus
Geno Mag Summary
(CCT;CCT) 0 common in clinvar
Make rs869025579(-;-)
Make rs869025579(-;CCT)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position196920022
GenePGAP1
is asnp
is mentioned by
dbSNPrs869025579
ebirs869025579
HLIrs869025579
Exacrs869025579
Varsomers869025579
Maprs869025579
PheGenIrs869025579
hapmaprs869025579
1000 genomesrs869025579
hgdprs869025579
ensemblrs869025579
gopubmedrs869025579
geneviewrs869025579
scholarrs869025579
googlers869025579
pharmgkbrs869025579
gwascentralrs869025579
openSNPrs869025579
23andMers869025579
23andMe allrs869025579
SNP Nexus

SNPshotrs869025579
SNPdbers869025579
MSV3drs869025579
GWAS Ctlgrs869025579
Max Magnitude0
ClinVar
Risk rs869025579(;)
Alt rs869025579(;)
Reference rs869025579(CCT;CCT)
Significance Pathogenic
Disease Mental retardation Cerebral visual impairment and intellectual disability
Variation info
Gene PGAP1
CLNDBN Mental retardation, autosomal recessive 42 Cerebral visual impairment and intellectual disability
Reversed 1
HGVS NC_000002.11:g.197784746_197784748delAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000208579.1, RCV000210383.1,