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: rs606231324
rs606231324
0.851 0.080 14 23428505 missense variant C/G;T snv
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction
0.700 1.000 2 2012 2017
dbSNP: rs606231324
rs606231324
0.851 0.080 14 23428505 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2012 2017
dbSNP: rs606231324
rs606231324
0.851 0.080 14 23428505 missense variant C/G;T snv
Left ventricular noncompaction cardiomyopathy
0.700 0
dbSNP: rs606231324
rs606231324
0.851 0.080 14 23428505 missense variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 0
dbSNP: rs606231324
rs606231324
0.851 0.080 14 23428505 missense variant C/G;T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
0.700 0