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rs869025578

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025578(A;A)
Make rs869025578(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position196873007
GenePGAP1
is asnp
is mentioned by
dbSNPrs869025578
ebirs869025578
HLIrs869025578
Exacrs869025578
Varsomers869025578
Maprs869025578
PheGenIrs869025578
hapmaprs869025578
1000 genomesrs869025578
hgdprs869025578
ensemblrs869025578
gopubmedrs869025578
geneviewrs869025578
scholarrs869025578
googlers869025578
pharmgkbrs869025578
gwascentralrs869025578
openSNPrs869025578
23andMers869025578
23andMe allrs869025578
SNP Nexus

SNPshotrs869025578
SNPdbers869025578
MSV3drs869025578
GWAS Ctlgrs869025578
Max Magnitude0
ClinVar
Risk rs869025578(A;A)
Alt rs869025578(A;A)
Reference rs869025578(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PGAP1
CLNDBN Mental retardation, autosomal recessive 42
Reversed 1
HGVS NC_000002.11:g.197737731A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000208580.1,