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rs869025580

From SNPedia

Orientationminus
Geno Mag Summary
(TAAAC;TAAAC) 0 common in clinvar
Make rs869025580(-;-)
Make rs869025580(-;TAAAC)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position196897133
GenePGAP1
is asnp
is mentioned by
dbSNPrs869025580
ebirs869025580
HLIrs869025580
Exacrs869025580
Varsomers869025580
Maprs869025580
PheGenIrs869025580
hapmaprs869025580
1000 genomesrs869025580
hgdprs869025580
ensemblrs869025580
gopubmedrs869025580
geneviewrs869025580
scholarrs869025580
googlers869025580
pharmgkbrs869025580
gwascentralrs869025580
openSNPrs869025580
23andMers869025580
23andMe allrs869025580
SNP Nexus

SNPshotrs869025580
SNPdbers869025580
MSV3drs869025580
GWAS Ctlgrs869025580
Max Magnitude0
ClinVar
Risk rs869025580(;)
Alt rs869025580(;)
Reference rs869025580(TAAAC;TAAAC)
Significance Pathogenic
Disease Mental retardation Cerebral visual impairment and intellectual disability
Variation info
Gene PGAP1
CLNDBN Mental retardation, autosomal recessive 42 Cerebral visual impairment and intellectual disability
Reversed 1
HGVS NC_000002.11:g.197761857_197761861delGTTTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000208582.1, RCV000210406.1,