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: rs200889953
rs200889953
ALPK3
1.000 0.040 15 84839087 stop gained C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 2012 2016
dbSNP: rs745688425
rs745688425
ALPK3
1.000 0.040 15 84858461 frameshift variant C/- delins 1.1E-05 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 2012 2016
dbSNP: rs749465164
rs749465164
ALPK3
1.000 15 84857913 stop gained C/G;T snv 8.3E-06; 4.2E-05
CUI: C4748014
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 		0.700 1.000 1 2016 2016
dbSNP: rs769139957
rs769139957
ALPK3
15 84840691 frameshift variant C/-;CC delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 1 2017 2017
dbSNP: rs1555435531
rs1555435531
ALPK3
1.000 15 84857924 stop gained G/A snv
CUI: C4748014
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 		0.700 0
dbSNP: rs1555436118
rs1555436118
ALPK3
1.000 15 84864630 stop gained G/A snv
CUI: C4748014
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 		0.700 0
dbSNP: rs762110595
rs762110595
ALPK3
1.000 15 84862634 splice acceptor variant G/A snv 1.2E-05 2.1E-05
CUI: C4748014
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 		0.700 0