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rs869025581

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025581(A;G)
Make rs869025581(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position196890913
GenePGAP1
is asnp
is mentioned by
dbSNPrs869025581
ebirs869025581
HLIrs869025581
Exacrs869025581
Varsomers869025581
Maprs869025581
PheGenIrs869025581
hapmaprs869025581
1000 genomesrs869025581
hgdprs869025581
ensemblrs869025581
gopubmedrs869025581
geneviewrs869025581
scholarrs869025581
googlers869025581
pharmgkbrs869025581
gwascentralrs869025581
openSNPrs869025581
23andMers869025581
23andMe allrs869025581
SNP Nexus

SNPshotrs869025581
SNPdbers869025581
MSV3drs869025581
GWAS Ctlgrs869025581
Max Magnitude0
ClinVar
Risk rs869025581(G;G)
Alt rs869025581(G;G)
Reference rs869025581(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PGAP1
CLNDBN Mental retardation, autosomal recessive 42
Reversed 1
HGVS NC_000002.11:g.197755637T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208574.1,