Gene: BTD ×
Source: CLINVAR ×
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: rs1004027979
rs1004027979
BTD
1 1.000 0.080 3 15644951 frameshift variant -/TC delins 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs1024847163
rs1024847163
BTD
1 1.000 0.080 3 15641919 missense variant T/G snv 3.5E-05 0.700 1.000 1 2016 2016
dbSNP: rs104893686
rs104893686
BTD
1 1.000 0.080 3 15645063 missense variant T/G snv 1.6E-05 0.700 1.000 1 1999 1999
dbSNP: rs104893687
rs104893687
BTD
1 1.000 0.080 3 15635614 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 3 2000 2016
dbSNP: rs104893688
rs104893688
BTD
1 1.000 0.080 3 15645451 missense variant C/T snv 6.9E-05 9.8E-05 0.800 1.000 8 1997 2012
dbSNP: rs1050035768
rs1050035768
BTD
1 1.000 0.080 3 15645484 missense variant A/T snv 4.2E-06 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1050514843
rs1050514843
BTD ; HACL1
1 1.000 0.080 3 15601893 splice donor variant GGTA/- delins 0.700 0
dbSNP: rs1057516223
rs1057516223
BTD
1 1.000 0.080 3 15641969 frameshift variant -/CATT delins 0.700 0
dbSNP: rs1057516252
rs1057516252
BTD
1 1.000 0.080 3 15644985 stop gained G/T snv 0.700 0
dbSNP: rs1057516440
rs1057516440
BTD ; HACL1
1 1.000 0.080 3 15601895 splice donor variant G/A;C;T snv 0.700 1.000 1 2004 2004
dbSNP: rs1057516812
rs1057516812
BTD
1 1.000 0.080 3 15635485 stop gained -/A delins 0.700 0
dbSNP: rs1057517114
rs1057517114
BTD ; HACL1
1 1.000 0.080 3 15601894 splice donor variant G/- delins 0.700 0
dbSNP: rs1057517225
rs1057517225
BTD
1 1.000 0.080 3 15645161 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057517256
rs1057517256
BTD
1 1.000 0.080 3 15645024 frameshift variant -/TC delins 0.700 0
dbSNP: rs1057517362
rs1057517362
BTD
1 1.000 0.080 3 15645176 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1157567876
rs1157567876
BTD
1 1.000 0.080 3 15644751 missense variant G/C snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1190721481
rs1190721481
BTD
1 1.000 0.080 3 15644626 missense variant T/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs119103232
rs119103232
BTD
1 1.000 0.080 3 15635479 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 6 1997 2017
dbSNP: rs1205964567
rs1205964567
BTD
1 1.000 0.080 3 15635571 frameshift variant -/ATCC delins 0.700 1.000 2 2007 2012
dbSNP: rs1277029090
rs1277029090
BTD
1 1.000 0.080 3 15645316 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1306944669
rs1306944669
BTD
1 1.000 0.080 3 15642018 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs13073139
rs13073139
BTD
1 1.000 0.080 3 15644367 missense variant G/A snv 3.3E-04 3.8E-04 0.800 1.000 9 1997 2017
dbSNP: rs13078881
rs13078881
BTD
1 1.000 0.080 3 15645186 missense variant G/C;T snv 3.2E-02 0.860 0.926 20 1997 2019
dbSNP: rs1336386457
rs1336386457
BTD
1 1.000 0.080 3 15642026 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs138818907
rs138818907
BTD
1 1.000 0.080 3 15645345 missense variant C/T snv 2.4E-05 1.1E-04 0.700 1.000 11 1999 2016