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rs587777378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs587777378(-;-)
Make rs587777378(-;AAG)
ReferenceGRCh38 38.1/142
Chromosome2
Position196912940
GenePGAP1
is asnp
is mentioned by
dbSNPrs587777378
ebirs587777378
HLIrs587777378
Exacrs587777378
Varsomers587777378
Maprs587777378
PheGenIrs587777378
hapmaprs587777378
1000 genomesrs587777378
hgdprs587777378
ensemblrs587777378
gopubmedrs587777378
geneviewrs587777378
scholarrs587777378
googlers587777378
pharmgkbrs587777378
gwascentralrs587777378
openSNPrs587777378
23andMers587777378
23andMe allrs587777378
SNP Nexus

SNPshotrs587777378
SNPdbers587777378
MSV3drs587777378
GWAS Ctlgrs587777378
Max Magnitude0
ClinVar
Risk rs587777378(;)
Alt rs587777378(;)
Reference rs587777378(AAG;AAG)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PGAP1
CLNDBN Mental retardation, autosomal recessive 42
Reversed 0
HGVS NC_000002.11:g.197777664_197777666delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000118980.4,