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: rs137853960
rs137853960
LDLR
1 1.000 0.080 19 11100303 missense variant G/A;T snv 6.8E-05; 5.3E-04 0.700 1.000 31 1989 2017
dbSNP: rs879254845
rs879254845
LDLR ; MIR6886
1 1.000 0.080 19 11113335 missense variant A/G;T snv 0.700 1.000 31 1989 2017
dbSNP: rs879255208
rs879255208
LDLR
1 1.000 0.080 19 11129540 missense variant T/A snv 0.700 1.000 31 1989 2017
dbSNP: rs1568592055
rs1568592055
LDLR
1 1.000 0.080 19 11102744 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs730882088
rs730882088
LDLR
1 1.000 0.080 19 11106660 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs746394586
rs746394586
TPM1
1 1.000 0.080 15 63057022 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs749466528
rs749466528
MTTP
1 1.000 0.080 4 99611192 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs869320648
rs869320648
LDLR
1 1.000 0.080 19 11105261 missense variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs869320649
rs869320649
LDLR
1 1.000 0.080 19 11105566 frameshift variant -/TG ins 0.700 1.000 1 2016 2016
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: rs1057516133
rs1057516133
LDLR
1 1.000 0.080 19 11105275 frameshift variant -/C 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: rs1057519662
rs1057519662
LDLR
1 1.000 0.080 19 11105570 frameshift variant -/CAAGGACAAATCTGACG delins 0.700 0