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: rs140148105
rs140148105
MYPN
0.925 10 68121497 missense variant A/G snv 9.5E-04 1.3E-03
CUI: C3714995
Disease: CARDIOMYOPATHY, DILATED, 1KK
CARDIOMYOPATHY, DILATED, 1KK 		0.800 1.000 1 2008 2013
dbSNP: rs71534278
rs71534278
MYPN
0.925 10 68199417 missense variant C/A;T snv 3.2E-03
CUI: C3714995
Disease: CARDIOMYOPATHY, DILATED, 1KK
CARDIOMYOPATHY, DILATED, 1KK 		0.800 1.000 1 2008 2013
dbSNP: rs71534280
rs71534280
MYPN
1.000 10 68201918 missense variant G/A snv 2.5E-04 8.3E-04
CUI: C3714995
Disease: CARDIOMYOPATHY, DILATED, 1KK
CARDIOMYOPATHY, DILATED, 1KK 		0.800 1.000 0 2008 2013
dbSNP: rs864621995
rs864621995
MYPN
1.000 10 68189083 missense variant C/T snv
CUI: C3714995
Disease: CARDIOMYOPATHY, DILATED, 1KK
CARDIOMYOPATHY, DILATED, 1KK 		0.800 1.000 0 2008 2013
dbSNP: rs140148105
rs140148105
MYPN
0.925 10 68121497 missense variant A/G snv 9.5E-04 1.3E-03
CUI: C3714998
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22 		0.700 0
dbSNP: rs199476401
rs199476401
MYPN
1.000 10 68121896 missense variant A/C;G snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs199476408
rs199476408
MYPN
0.851 0.040 10 68165803 stop gained C/G;T snv 4.0E-06
CUI: C3808963
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 		0.700 0
dbSNP: rs71534278
rs71534278
MYPN
0.925 10 68199417 missense variant C/A;T snv 3.2E-03
CUI: C3714998
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22 		0.700 0
dbSNP: rs865921466
rs865921466
MYPN
1.000 10 68188904 splice acceptor variant G/A snv
CUI: C3714995
Disease: CARDIOMYOPATHY, DILATED, 1KK
CARDIOMYOPATHY, DILATED, 1KK 		0.700 0