Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518461
rs397518461
GMPPA ; ASIC4-AS1
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		C 0.800 CausalMutation CLINVAR

dbSNP: rs397518462
rs397518462
GMPPA ; ASIC4-AS1
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777676
rs587777676
SPEG ; ASIC4-AS1
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1553624347
rs1553624347
GMPPA ; ASIC4-AS1
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397518460
rs397518460
GMPPA ; ASIC4-AS1
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587777672
rs587777672
SPEG ; ASIC4-AS1
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886037654
rs886037654
GMPPA ; ASIC4-AS1
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		G 0.700 CausalMutation CLINVAR