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: 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: 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: 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: rs876661345
rs876661345
EMD
1 1.000 0.120 X 154379754 frameshift variant -/C delins 0.700 1.000 2 2007 2011
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: rs267606782
rs267606782
EMD
4 0.925 0.120 X 154379485 start lost A/G snv 0.710 1.000 4 1994 2015