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: rs397516127
rs397516127
MYH7
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 0
dbSNP: rs397516171
rs397516171
MYH7
9 0.763 0.160 14 23424041 missense variant C/G;T snv 0.700 0
dbSNP: rs397516264
rs397516264
MYH7
9 0.763 0.160 14 23431602 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs727504753
rs727504753
MYH7
6 0.807 0.160 14 23429345 missense variant C/T snv 0.700 0
dbSNP: rs730880761
rs730880761
MYH7
2 0.925 0.120 14 23424025 missense variant T/A snv 8.0E-06 0.700 0
dbSNP: rs782011714
rs782011714
EMD
1 1.000 0.120 X 154379496 stop gained C/G;T snv 1.7E-05 6.5E-05 0.700 0
dbSNP: rs863224900
rs863224900
MYH7
6 0.807 0.160 14 23428534 missense variant A/C;G;T snv 0.700 0
dbSNP: rs886041854
rs886041854
EMD
1 1.000 0.120 X 154379544 frameshift variant C/- del 0.700 0