Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397518461
rs397518461
GMPPA ; ASIC4-AS1
1.000 2 219506260 missense variant A/C snv
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		0.800 1.000 0 2013 2013
dbSNP: rs397518462
rs397518462
GMPPA ; ASIC4-AS1
1.000 2 219504138 missense variant G/A;C snv
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		0.800 1.000 0 2013 2013
dbSNP: rs587777676
rs587777676
SPEG ; ASIC4-AS1
1.000 2 219489174 missense variant G/T snv
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.800 1.000 0 2014 2014
dbSNP: rs1553624347
rs1553624347
GMPPA ; ASIC4-AS1
1.000 2 219505556 splice donor variant G/A snv
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		0.700 0
dbSNP: rs397518460
rs397518460
GMPPA ; ASIC4-AS1
1.000 2 219501903 stop gained C/G;T snv 8.0E-06
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		0.700 0
dbSNP: rs587777672
rs587777672
SPEG ; ASIC4-AS1
1.000 2 219484160 stop gained C/A;G;T snv 1.6E-05; 1.6E-05
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0
dbSNP: rs886037654
rs886037654
GMPPA ; ASIC4-AS1
1.000 2 219501546 frameshift variant A/- delins
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		0.700 0