Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894805
rs104894805
EMD
1 1.000 0.120 X 154380980 missense variant C/A;T snv 0.800 1.000 4 1999 2004
dbSNP: rs104894806
rs104894806
EMD
1 1.000 0.120 X 154380979 missense variant C/A snv 0.800 1.000 4 1999 2004
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
4 0.882 0.160 14 23415021 missense variant G/A;T snv 0.800 1.000 1 2007 2007
dbSNP: rs267606782
rs267606782
EMD
4 0.925 0.120 X 154379485 start lost A/G snv 0.710 1.000 4 1994 2015
dbSNP: rs371898076
rs371898076
MYH7
9 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 5 1999 2014
dbSNP: rs1557182670
rs1557182670
EMD
1 1.000 0.120 X 154381052 frameshift variant G/- delins 0.700 1.000 4 1995 2005
dbSNP: rs1557182560
rs1557182560
EMD
1 1.000 0.120 X 154380783 stop gained G/T snv 0.700 1.000 3 1996 2011
dbSNP: rs1557182661
rs1557182661
EMD
1 1.000 0.120 X 154381032 stop gained G/A snv 0.700 1.000 3 1996 2011
dbSNP: rs1557182611
rs1557182611
EMD
1 1.000 0.120 X 154380916 stop gained C/T snv 0.700 1.000 2 1996 2005
dbSNP: rs1557182654
rs1557182654
EMD
1 1.000 0.120 X 154381013 frameshift variant CA/- del 0.700 1.000 2 1996 2005
dbSNP: rs876661345
rs876661345
EMD
1 1.000 0.120 X 154379754 frameshift variant -/C delins 0.700 1.000 2 2007 2011
dbSNP: rs1557182214
rs1557182214
EMD
2 0.925 0.120 X 154379567 splice donor variant G/T snv 0.700 1.000 1 1995 1995
dbSNP: rs1557182692
rs1557182692
EMD
3 0.925 0.120 X 154381106 frameshift variant TCTGG/- del 0.700 1.000 1 1999 1999
dbSNP: rs1060502612
rs1060502612
EMD
1 1.000 0.120 X 154379730 stop gained C/A snv 0.700 0
dbSNP: rs121913628
rs121913628
MYH7
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 0
dbSNP: rs132630262
rs132630262
EMD
1 1.000 0.120 X 154379737 stop gained C/T snv 0.700 0
dbSNP: rs1557182301
rs1557182301
EMD
1 1.000 0.120 X 154379740 frameshift variant -/G delins 0.700 0
dbSNP: rs1557182364
rs1557182364
EMD
1 1.000 0.120 X 154379968 frameshift variant -/AT delins 0.700 0
dbSNP: rs1569552076
rs1569552076
EMD
1 1.000 0.120 X 154379500 frameshift variant G/- del 0.700 0
dbSNP: rs1569552079
rs1569552079
EMD
1 1.000 0.120 X 154379707 stop gained -/A delins 0.700 0
dbSNP: rs1569552106
rs1569552106
EMD
1 1.000 0.120 X 154381037 frameshift variant C/- delins 0.700 0
dbSNP: rs267606908
rs267606908
MYH7
9 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs3218713
rs3218713
MYH7
10 0.763 0.160 14 23431468 missense variant C/A;T snv 0.700 0
dbSNP: rs3218714
rs3218714
MYH7
9 0.763 0.160 14 23429279 missense variant G/A;C snv 0.700 0
dbSNP: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0