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: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
dbSNP: rs104894682
rs104894682
FKRP
2 0.925 0.160 19 46756936 stop lost T/A snv 8.1E-06 1.4E-05 0.700 0
dbSNP: rs104894689
rs104894689
FKRP
1 1.000 0.120 19 46756214 stop gained G/A snv 0.700 0
dbSNP: rs148206382
rs148206382
FKRP
1 1.000 0.120 19 46755877 missense variant C/A snv 4.5E-03 3.6E-03 0.700 0
dbSNP: rs1483781400
rs1483781400
FKRP
1 1.000 0.120 19 46756381 stop gained G/A;T 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: rs1555738149
rs1555738149
FKRP
1 1.000 0.120 19 46755617 frameshift variant -/AGGCATTTGACAACGCG delins 0.700 0
dbSNP: rs1555738201
rs1555738201
FKRP
1 1.000 0.120 19 46755664 stop gained C/T snv 0.700 0
dbSNP: rs1555738204
rs1555738204
FKRP
1 1.000 0.120 19 46755671 frameshift variant -/AGCCC delins 0.700 0
dbSNP: rs1555738245
rs1555738245
FKRP
1 1.000 0.120 19 46755717 frameshift variant G/AT delins 0.700 0
dbSNP: rs1555738311
rs1555738311
FKRP
1 1.000 0.120 19 46755794 frameshift variant GCGCC/- delins 0.700 0
dbSNP: rs1555738456
rs1555738456
FKRP
1 1.000 0.120 19 46755914 frameshift variant T/- del 0.700 0
dbSNP: rs1555738502
rs1555738502
FKRP
1 1.000 0.120 19 46755976 stop gained C/T snv 0.700 0
dbSNP: rs1555738568
rs1555738568
FKRP
1 1.000 0.120 19 46756012 frameshift variant -/CCCGC delins 0.700 0
dbSNP: rs1555738651
rs1555738651
FKRP
1 1.000 0.120 19 46756104 frameshift variant G/- delins 0.700 0
dbSNP: rs1555738675
rs1555738675
FKRP
1 1.000 0.120 19 46756131 frameshift variant GGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGC/- delins 0.700 0
dbSNP: rs1555738686
rs1555738686
FKRP
1 1.000 0.120 19 46756136 frameshift variant G/- del 0.700 0
dbSNP: rs1555738753
rs1555738753
FKRP
1 1.000 0.120 19 46756228 stop gained G/T snv 0.700 0
dbSNP: rs1555738764
rs1555738764
FKRP
1 1.000 0.120 19 46756244 frameshift variant G/-;GGG delins 0.700 0
dbSNP: rs1555738883
rs1555738883
FKRP
1 1.000 0.120 19 46756407 frameshift variant GC/- delins 0.700 0
dbSNP: rs1555739041
rs1555739041
FKRP
1 1.000 0.120 19 46756569 frameshift variant C/- del 0.700 0
dbSNP: rs563033008
rs563033008
FKRP
2 0.925 0.160 19 46756348 missense variant G/A snv 3.2E-05 3.1E-04 0.700 0
dbSNP: rs587777823
rs587777823
FKRP
1 1.000 0.120 19 46755835 frameshift variant -/ACCT delins 0.700 0
dbSNP: rs587780334
rs587780334
FKRP
1 1.000 0.120 19 46756477 stop gained G/C;T snv 8.4E-03; 9.0E-06 0.700 0
dbSNP: rs752582904
rs752582904
FKRP
2 0.925 0.120 19 46756397 missense variant C/G snv 6.0E-06 7.0E-06 0.700 0