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: rs1057518952
rs1057518952
PKHD1
1.000 0.080 6 52024728 frameshift variant -/C delins
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.700 0
dbSNP: rs180177039
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.700 0
dbSNP: rs190521996
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.700 0
dbSNP: rs786204707
rs786204707
PKHD1
0.925 0.200 6 52043636 stop gained C/T snv
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.700 0
dbSNP: rs80338701
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.700 0