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: rs1050514843
rs1050514843
BTD ; HACL1
1 1.000 0.080 3 15601893 splice donor variant GGTA/- delins 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: rs1057517114
rs1057517114
BTD ; HACL1
1 1.000 0.080 3 15601894 splice donor variant G/- delins 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: rs80338684
rs80338684
BTD
1 1.000 0.080 3 15635477 frameshift variant GCGGCTG/TCC delins 0.700 1.000 2 1995 1997
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: rs1057516812
rs1057516812
BTD
1 1.000 0.080 3 15635485 stop gained -/A delins 0.700 0
dbSNP: rs1553652080
rs1553652080
BTD
1 1.000 0.080 3 15635497 frameshift variant CT/- del 0.700 0
dbSNP: rs34885143
rs34885143
BTD
1 1.000 0.080 3 15635512 missense variant G/A snv 1.0E-02 1.0E-02 0.700 1.000 1 2004 2004
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: rs397507170
rs397507170
BTD
1 1.000 0.080 3 15635563 missense variant G/A;T snv 1.2E-05 0.700 1.000 2 1999 2001
dbSNP: rs397514340
rs397514340
BTD
1 1.000 0.080 3 15635569 missense variant G/A snv 0.700 1.000 1 2003 2003
dbSNP: rs1205964567
rs1205964567
BTD
1 1.000 0.080 3 15635571 frameshift variant -/ATCC delins 0.700 1.000 2 2007 2012
dbSNP: rs397514436
rs397514436
BTD
1 1.000 0.080 3 15635571 missense variant G/C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs397514341
rs397514341
BTD
1 1.000 0.080 3 15635573 missense variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs397514333
rs397514333
BTD
1 1.000 0.080 3 15635591 missense variant T/C snv 1.5E-03 1.9E-04 0.700 1.000 1 2005 2005
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: rs397507171
rs397507171
BTD
1 1.000 0.080 3 15635624 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2003 2016
dbSNP: rs397514346
rs397514346
BTD
1 1.000 0.080 3 15635625 inframe deletion TTGGAGCTC/- delins 7.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs587783002
rs587783002
BTD
1 1.000 0.080 3 15635636 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 1 2014 2014
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: rs397514348
rs397514348
BTD
1 1.000 0.080 3 15635657 missense variant A/G;T snv 4.0E-06 0.700 1.000 5 2003 2017
dbSNP: rs397514349
rs397514349
BTD
1 1.000 0.080 3 15635662 stop gained C/T snv 0.700 1.000 1 2005 2005