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rs587777202

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777202(A;A)
Make rs587777202(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position196847946
GenePGAP1
is asnp
is mentioned by
dbSNPrs587777202
ebirs587777202
HLIrs587777202
Exacrs587777202
Varsomers587777202
Maprs587777202
PheGenIrs587777202
hapmaprs587777202
1000 genomesrs587777202
hgdprs587777202
ensemblrs587777202
gopubmedrs587777202
geneviewrs587777202
scholarrs587777202
googlers587777202
pharmgkbrs587777202
gwascentralrs587777202
openSNPrs587777202
23andMers587777202
23andMe allrs587777202
SNP Nexus

SNPshotrs587777202
SNPdbers587777202
MSV3drs587777202
GWAS Ctlgrs587777202
Max Magnitude0
ClinVar
Risk rs587777202(A,G,T;A,G,T)
Alt rs587777202(A,G,T;A,G,T)
Reference rs587777202(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PGAP1
CLNDBN Mental retardation, autosomal recessive 42
Reversed 0
HGVS NC_000002.11:g.197712670C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087334.4,