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: rs1558081627
rs1558081627
DDR2
2 1.000 0.040 1 162776306 missense variant A/G snv 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs778768583
rs778768583
CAPN3
10 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
dbSNP: rs886042108
rs886042108
CAPN3
10 0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs1558079436
rs1558079436
DDR2
3 0.925 0.040 1 162773569 missense variant T/C snv 0.700 0