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: rs755104973
rs755104973
LDLRAP1
1 1.000 0.040 1 25553921 splice acceptor variant G/C snv 4.0E-06 0.700 1.000 4 2001 2004
dbSNP: rs781585299
rs781585299
LDLRAP1
1 1.000 0.040 1 25563135 frameshift variant -/C;CC delins 1.4E-05 0.700 1.000 4 2002 2012
dbSNP: rs121908325
rs121908325
LDLRAP1
1 1.000 0.040 1 25557214 stop gained C/T snv 7.0E-06 0.700 1.000 2 2001 2016
dbSNP: rs1201229554
rs1201229554
LDLRAP1
1 1.000 0.040 1 25543763 frameshift variant G/- delins 7.0E-06 0.700 1.000 1 2001 2001
dbSNP: rs386629678
rs386629678
LDLRAP1
1 1.000 0.040 1 25563141 missense variant TC/CA mnv 0.700 0
dbSNP: rs1019504966
rs1019504966
LDLRAP1
1 1.000 0.040 1 25543699 start lost A/G snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs121908324
rs121908324
LDLRAP1
1 1.000 0.040 1 25543763 stop gained G/A;C;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs374045590
rs374045590
LDLR
7 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs879254382
rs879254382
LDLR
3 0.882 0.080 19 11089549 start lost A/C;G;T snv 0.010 1.000 1 2019 2019