{{Rsnum
|rsid=397518460
|Chromosome=2
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GMPPA
|position=219501903
|Gene_s=GMPPA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=2
|CLNACC=RCV000074374.1
|CLNALLE=1
|CLNDBN=Alacrima, achalasia, and mental retardation syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN181208:615510:869
|CLNHGVS=NC_000002.11:g.220366625C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=615495.0001
|Disease=Alacrima
|FwdALT=T
|FwdREF=C
|GENEINFO=GMPPA:29926
|GENE_ID=29926
|GENE_NAME=GMPPA
|REF=C
|RSPOS=220366625
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=397518460
}}