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: rs80358284
rs80358284
FZD4 ; PRSS23
10 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 1.000 7 2003 2016
dbSNP: rs761919591
rs761919591
LRP5
1 1.000 11 68386565 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs80358322
rs80358322
LRP5
2 0.925 11 68439918 splice donor variant T/G snv 6.5E-06; 6.5E-06 0.700 1.000 1 2004 2004
dbSNP: rs1171910750
rs1171910750
TSPAN12
1 1.000 7 120838835 inframe deletion GAT/- delins 4.0E-06 0.700 0
dbSNP: rs1308485193
rs1308485193
LRP5
1 1.000 11 68425107 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs80358295
rs80358295
FZD4 ; PRSS23
2 0.925 0.080 11 86951471 frameshift variant GTCT/- delins 8.0E-06 2.1E-05 0.700 0
dbSNP: rs869312819
rs869312819
RCBTB1
2 0.925 0.080 13 49544736 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057519379
rs1057519379
CTNNB1
3 0.882 0.080 3 41233777 frameshift variant -/C ins 0.010 1.000 1 2017 2017
dbSNP: rs1800552
rs1800552
ABCA4
4 0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03 0.010 < 0.001 1 2018 2018
dbSNP: rs28933684
rs28933684
NDP ; NDP-AS1
3 0.882 0.160 X 43949831 missense variant G/A;T snv 0.010 1.000 1 1993 1993
dbSNP: rs373273223
rs373273223
ZNF408
3 0.882 0.080 11 46705063 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs61735304
rs61735304
FZD4 ; FZD4-DT
3 0.882 0.080 11 86954989 missense variant G/A snv 1.7E-02 1.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs748653573
rs748653573
CTNNB1
3 0.882 0.080 3 41238067 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs768012106
rs768012106
CTNNB1
1 1.000 3 41239145 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs80358282
rs80358282
FZD4 ; FZD4-DT
2 0.925 0.080 11 86954881 missense variant G/A snv 5.2E-04 1.5E-04 0.010 1.000 1 2004 2004
dbSNP: rs80358287
rs80358287
FZD4 ; PRSS23
2 0.925 0.080 11 86952215 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs80358294
rs80358294
FZD4 ; PRSS23
3 0.882 0.080 11 86951506 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs919205099
rs919205099
FZD4 ; PRSS23
1 1.000 11 86952386 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010