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: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs35993949
rs35993949
CPA6
9 0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03 0.700 0
dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
11 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0