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: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs104894502
rs104894502
TPM1
6 0.807 0.120 15 63060915 missense variant A/G;T snv 0.030 1.000 3 1994 2012
dbSNP: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.030 1.000 3 1994 2012
dbSNP: rs104894724
rs104894724
TNNI3
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1057516127
rs1057516127
LDLR
4 0.925 0.080 19 11123200 stop gained G/T snv 7.0E-06 0.700 0
dbSNP: rs1057516128
rs1057516128
LDLR ; MIR6886
1 1.000 0.080 19 11113584 missense variant A/G snv 0.700 0
dbSNP: rs1057516129
rs1057516129
LDLR
1 1.000 0.080 19 11102706 frameshift variant G/- del 0.700 0
dbSNP: rs1057516130
rs1057516130
LDLR
1 1.000 0.080 19 11107479 frameshift variant G/- del 0.700 0
dbSNP: rs1057516132
rs1057516132
LDLR
2 0.925 0.080 19 11105245 frameshift variant TTTCG/- delins 0.700 0
dbSNP: rs1057516133
rs1057516133
LDLR
1 1.000 0.080 19 11105275 frameshift variant -/C delins 0.700 0
dbSNP: rs1057516134
rs1057516134
LDLR
2 0.925 0.080 19 11120123 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516135
rs1057516135
LDLR
2 0.925 0.080 19 11105372 frameshift variant A/- delins 0.700 0
dbSNP: rs1057519647
rs1057519647
LDLR
1 1.000 0.080 19 11089381 upstream gene variant A/G snv 0.700 0
dbSNP: rs1057519648
rs1057519648
LDLR
1 1.000 0.080 19 11089394 upstream gene variant ACCCCA/- del 0.700 0
dbSNP: rs1057519649
rs1057519649
LDLR
1 1.000 0.080 19 11089422 upstream gene variant -/A delins 0.700 0
dbSNP: rs1057519650
rs1057519650
LDLR
1 1.000 0.080 19 11089450 upstream gene variant A/G snv 0.700 0
dbSNP: rs1057519652
rs1057519652
LDLR
1 1.000 0.080 19 11102675 missense variant T/C snv 0.700 0
dbSNP: rs1057519653
rs1057519653
LDLR
1 1.000 0.080 19 11102715 frameshift variant -/TGCATTC delins 0.700 0
dbSNP: rs1057519654
rs1057519654
LDLR
1 1.000 0.080 19 11105233 stop gained C/A snv 0.700 0
dbSNP: rs1057519655
rs1057519655
LDLR
2 1.000 0.080 19 11105516 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1057519657
rs1057519657
LDLR
1 1.000 0.080 19 11105564 frameshift variant -/CGACTGC delins 0.700 0
dbSNP: rs1057519659
rs1057519659
LDLR
1 1.000 0.080 19 11105579 frameshift variant AATCTGACGA/- delins 0.700 0
dbSNP: rs1057519660
rs1057519660
LDLR
1 1.000 0.080 19 11105583 frameshift variant ACGAGGAAAACTG/- delins 0.700 0
dbSNP: rs1057519661
rs1057519661
LDLR
5 0.882 0.080 19 11105587 frameshift variant C/- del 0.710 1.000 1 2000 2000
dbSNP: rs1057519662
rs1057519662
LDLR
1 1.000 0.080 19 11105570 frameshift variant -/CAAGGACAAATCTGACG delins 0.700 0