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 0.800 1.000 13 2002 2010
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
1 1.000 0.080 11 86951751 missense variant C/G snv 0.800 1.000 13 2002 2010
dbSNP: rs80358293
rs80358293
FZD4 ; PRSS23
1 1.000 0.080 11 86951732 missense variant T/C snv 4.0E-06 0.800 1.000 13 2002 2010
dbSNP: rs80358294
rs80358294
FZD4 ; PRSS23
3 0.882 0.080 11 86951506 missense variant C/G;T snv 1.2E-05 0.800 1.000 13 2002 2010
dbSNP: rs104894223
rs104894223
FZD4 ; PRSS23
2 0.925 0.080 11 86951990 missense variant T/C snv 5.1E-04 5.2E-04 0.700 1.000 13 2002 2010
dbSNP: rs139401671
rs139401671
FZD4 ; FZD4-DT
1 1.000 0.080 11 86954968 missense variant C/G snv 2.9E-04 2.9E-04 0.700 1.000 13 2002 2010
dbSNP: rs61735304
rs61735304
FZD4 ; FZD4-DT
3 0.882 0.080 11 86954989 missense variant G/A snv 1.7E-02 1.3E-02 0.700 1.000 13 2002 2010
dbSNP: rs80358281
rs80358281
FZD4 ; FZD4-DT
1 1.000 0.080 11 86954979 missense variant C/T snv 7.0E-06 0.700 1.000 13 2002 2010
dbSNP: rs80358282
rs80358282
FZD4 ; FZD4-DT
2 0.925 0.080 11 86954881 missense variant G/A snv 5.2E-04 1.5E-04 0.700 1.000 13 2002 2010
dbSNP: rs80358285
rs80358285
FZD4 ; PRSS23
1 1.000 0.080 11 86952442 missense variant A/G snv 0.700 1.000 13 2002 2010
dbSNP: rs80358286
rs80358286
FZD4 ; PRSS23
1 1.000 0.080 11 86952287 missense variant T/C snv 0.700 1.000 13 2002 2010
dbSNP: rs80358287
rs80358287
FZD4 ; PRSS23
2 0.925 0.080 11 86952215 missense variant A/G snv 0.700 1.000 13 2002 2010
dbSNP: rs80358288
rs80358288
FZD4 ; PRSS23
1 1.000 0.080 11 86952146 missense variant A/G snv 0.700 1.000 13 2002 2010
dbSNP: rs80358297
rs80358297
FZD4 ; PRSS23
1 1.000 0.080 11 86951423 missense variant T/G snv 0.700 1.000 13 2002 2010
dbSNP: rs80358298
rs80358298
FZD4 ; PRSS23
1 1.000 0.080 11 86951293 missense variant C/T snv 0.700 1.000 13 2002 2010
dbSNP: rs80358300
rs80358300
FZD4 ; PRSS23
1 1.000 0.080 11 86951266 missense variant G/A;C snv 1.6E-05 0.700 1.000 13 2002 2010
dbSNP: rs201030241
rs201030241
LRP5
1 1.000 0.080 11 68446497 missense variant A/G snv 3.7E-04 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057519379
rs1057519379
CTNNB1
3 0.882 0.080 3 41233777 frameshift variant -/C ins 0.700 0
dbSNP: rs1057519380
rs1057519380
CTNNB1
2 0.925 0.080 3 41239137 stop gained -/TAGCTATCGTTCTTTT delins 0.700 0
dbSNP: rs1064794064
rs1064794064
FZD4 ; PRSS23
1 1.000 0.080 11 86952145 missense variant C/T snv 0.700 0
dbSNP: rs1320065036
rs1320065036
LRP5
2 0.925 0.160 11 68386342 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1332274863
rs1332274863
LRP5
1 1.000 0.080 11 68386441 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs748653573
rs748653573
CTNNB1
3 0.882 0.080 3 41238067 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs80358301
rs80358301
FZD4 ; PRSS23
1 1.000 0.080 11 86951272 inframe deletion CCACAT/- delins 0.700 0
dbSNP: rs80358303
rs80358303
FZD4 ; PRSS23
1 1.000 0.080 11 86951254 frameshift variant AG/- delins 0.700 0