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: rs397514390
rs397514390
BTD
1 1.000 0.080 3 15644692 stop gained T/A;G snv 0.700 1.000 2 2001 2016
dbSNP: rs397514416
rs397514416
BTD
1 1.000 0.080 3 15645170 stop gained T/A snv 0.710 1.000 2 2001 2019
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: rs151071780
rs151071780
BTD
1 1.000 0.080 3 15635641 stop gained C/G;T snv 1.8E-03 0.700 1.000 1 1997 1997
dbSNP: rs1559601106
rs1559601106
BTD
1 1.000 0.080 3 15645413 stop gained T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs35145938
rs35145938
BTD
1 1.000 0.080 3 15645140 stop gained C/A;T snv 4.0E-06; 3.1E-03 0.700 1.000 1 2009 2009
dbSNP: rs372687866
rs372687866
BTD
1 1.000 0.080 3 15644639 stop gained C/G;T snv 4.0E-06 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs397514336
rs397514336
BTD
1 1.000 0.080 3 15635515 stop gained G/T snv 0.700 1.000 1 2007 2007
dbSNP: rs397514338
rs397514338
BTD
1 1.000 0.080 3 15635539 stop gained G/A;T snv 2.4E-05 0.700 1.000 1 2005 2005
dbSNP: rs397514339
rs397514339
BTD
1 1.000 0.080 3 15635550 stop gained T/G snv 0.700 1.000 1 2000 2000
dbSNP: rs397514349
rs397514349
BTD
1 1.000 0.080 3 15635662 stop gained C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs397514362
rs397514362
BTD
1 1.000 0.080 3 15644322 stop gained C/T snv 0.700 1.000 1 2000 2000
dbSNP: rs397514401
rs397514401
BTD
1 1.000 0.080 3 15645013 stop gained G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs397514414
rs397514414
BTD
1 1.000 0.080 3 15645131 stop gained T/G snv 0.700 1.000 1 2010 2010
dbSNP: rs397514434
rs397514434
BTD
1 1.000 0.080 3 15645014 stop gained G/A snv 0.700 1.000 1 1999 1999
dbSNP: rs760612966
rs760612966
BTD
1 1.000 0.080 3 15644982 stop gained C/A;T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057516252
rs1057516252
BTD
1 1.000 0.080 3 15644985 stop gained G/T snv 0.700 0
dbSNP: rs1057516812
rs1057516812
BTD
1 1.000 0.080 3 15635485 stop gained -/A delins 0.700 0
dbSNP: rs1277029090
rs1277029090
BTD
1 1.000 0.080 3 15645316 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs143058480
rs143058480
BTD ; HACL1
1 1.000 0.080 3 15601893 stop gained A/G;T snv 1.6E-05 0.700 0
dbSNP: rs1553653062
rs1553653062
BTD
1 1.000 0.080 3 15641914 stop gained C/T snv 0.700 0
dbSNP: rs1553654145
rs1553654145
BTD
1 1.000 0.080 3 15645213 stop gained -/A delins 0.700 0
dbSNP: rs1553654186
rs1553654186
BTD
1 1.000 0.080 3 15645317 stop gained G/A snv 0.700 0
dbSNP: rs747548016
rs747548016
BTD
1 1.000 0.080 3 15644941 stop gained T/A snv 4.0E-06 0.700 0
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