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rs143038880

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143038880(A;A)
Make rs143038880(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position196875776
GenePGAP1
is asnp
is mentioned by
dbSNPrs143038880
ebirs143038880
HLIrs143038880
Exacrs143038880
Varsomers143038880
Maprs143038880
PheGenIrs143038880
hapmaprs143038880
1000 genomesrs143038880
hgdprs143038880
ensemblrs143038880
gopubmedrs143038880
geneviewrs143038880
scholarrs143038880
googlers143038880
pharmgkbrs143038880
gwascentralrs143038880
openSNPrs143038880
23andMers143038880
23andMe allrs143038880
SNP Nexus

SNPshotrs143038880
SNPdbers143038880
MSV3drs143038880
GWAS Ctlgrs143038880
Max Magnitude0
ClinVar
Risk rs143038880(A;A)
Alt rs143038880(A;A)
Reference rs143038880(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PGAP1
CLNDBN Mental retardation, autosomal recessive 42
Reversed 0
HGVS NC_000002.11:g.197740500G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208575.1,