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: rs1057518968
rs1057518968
DTNA
2 1.000 0.040 18 34794065 missense variant A/G snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
4 0.925 0.040 2 178616928 frameshift variant T/- del 0.700 0
dbSNP: rs1553915256
rs1553915256
TTN ; TTN-AS1
1 1.000 0.040 2 178725367 splice donor variant C/T snv 0.700 0
dbSNP: rs1554093433
rs1554093433
NKX2-5
4 0.925 0.080 5 173232833 stop gained G/T snv 0.700 0
dbSNP: rs587782958
rs587782958
MYBPC3
10 0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05 0.700 0