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: rs137853971
rs137853971
USB1
1 1.000 0.120 16 58014325 missense variant A/G snv 0.710 1.000 1 2010 2010
dbSNP: rs137853973
rs137853973
ZNF319 ; USB1
2 0.925 0.160 16 58002623 stop gained G/A snv 1.2E-05 0.700 1.000 3 2010 2012
dbSNP: rs137853972
rs137853972
USB1
1 1.000 0.120 16 58019045 splice donor variant AGGAACTACAGG/- del 0.700 1.000 1 2010 2010
dbSNP: rs1555498399
rs1555498399
USB1
1 1.000 0.120 16 58014319 frameshift variant A/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1249059283
rs1249059283
USB1
1 1.000 0.120 16 58018985 missense variant A/C;G snv 4.0E-06; 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs1292827495
rs1292827495
USB1
1 1.000 0.120 16 58019056 splice donor variant G/T snv 4.0E-06 0.700 0
dbSNP: rs137853970
rs137853970
USB1
1 1.000 0.120 16 58017332 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1459714680
rs1459714680
USB1
1 1.000 0.120 16 58019035 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs1555497680
rs1555497680
ZNF319 ; USB1
1 1.000 0.120 16 58002647 splice donor variant T/G snv 0.700 0
dbSNP: rs1555498092
rs1555498092
USB1
1 1.000 0.120 16 58009928 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1555498117
rs1555498117
USB1
1 1.000 0.120 16 58009992 frameshift variant -/C delins 0.700 0
dbSNP: rs1555498120
rs1555498120
USB1
1 1.000 0.120 16 58010007 frameshift variant G/- delins 0.700 0
dbSNP: rs1555498129
rs1555498129
USB1
1 1.000 0.120 16 58010078 stop gained C/T snv 0.700 0
dbSNP: rs1555498396
rs1555498396
USB1
1 1.000 0.120 16 58014271 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555498563
rs1555498563
USB1
1 1.000 0.120 16 58017348 missense variant T/G snv 0.700 0
dbSNP: rs1555498565
rs1555498565
USB1
1 1.000 0.120 16 58017361 frameshift variant A/- del 0.700 0
dbSNP: rs1555498573
rs1555498573
USB1
1 1.000 0.120 16 58017371 stop gained C/T snv 0.700 0
dbSNP: rs1555498581
rs1555498581
USB1
1 1.000 0.120 16 58017440 splice donor variant G/A snv 0.700 0
dbSNP: rs199820065
rs199820065
ZNF319 ; USB1
1 1.000 0.120 16 58002638 stop gained T/A;C snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs374559185
rs374559185
ZNF319 ; USB1
1 1.000 0.120 16 58002612 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs759761915
rs759761915
ZNF319 ; USB1
1 1.000 0.120 16 58002554 frameshift variant GG/- delins 0.700 0
dbSNP: rs771096742
rs771096742
USB1
1 1.000 0.120 16 58009930 stop gained T/A;C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs777667891
rs777667891
USB1
1 1.000 0.120 16 58014309 frameshift variant TCAA/- delins 1.2E-05 3.5E-05 0.700 0
dbSNP: rs786205051
rs786205051
ZNF319 ; USB1
1 1.000 0.120 16 58002558 frameshift variant C/- delins 0.700 0