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: 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: 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: rs1277029090
rs1277029090
BTD
1 1.000 0.080 3 15645316 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1336386457
rs1336386457
BTD
1 1.000 0.080 3 15642026 missense variant G/A;T 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: rs1553652080
rs1553652080
BTD
1 1.000 0.080 3 15635497 frameshift variant CT/- del 0.700 0
dbSNP: rs1553653062
rs1553653062
BTD
1 1.000 0.080 3 15641914 stop gained C/T snv 0.700 0
dbSNP: rs1553653732
rs1553653732
BTD
1 1.000 0.080 3 15644505 frameshift variant TTT/AGTA delins 0.700 0
dbSNP: rs1553654145
rs1553654145
BTD
1 1.000 0.080 3 15645213 stop gained -/A delins 0.700 0
dbSNP: rs1553654178
rs1553654178
BTD
1 1.000 0.080 3 15645310 frameshift variant CTGTGGGGCAACTTCAGTAC/- delins 0.700 0
dbSNP: rs1553654186
rs1553654186
BTD
1 1.000 0.080 3 15645317 stop gained G/A snv 0.700 0
dbSNP: rs1553654220
rs1553654220
BTD
1 1.000 0.080 3 15645410 frameshift variant -/T delins 0.700 0
dbSNP: rs373249212
rs373249212
BTD
1 1.000 0.080 3 15635689 splice donor variant G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs374141881
rs374141881
BTD
1 1.000 0.080 3 15645093 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs397514439
rs397514439
BTD
1 1.000 0.080 3 15642004 frameshift variant -/A delins 0.700 0
dbSNP: rs745343884
rs745343884
BTD
1 0.882 0.120 3 15644335 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 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: rs749162799
rs749162799
BTD
1 1.000 0.080 3 15644857 frameshift variant TT/- del 0.700 0
dbSNP: rs773137513
rs773137513
BTD
1 1.000 0.080 3 15644848 frameshift variant ACCTTATAAT/- del 4.0E-06 0.700 0
dbSNP: rs780874850
rs780874850
BTD
1 1.000 0.080 3 15644493 frameshift variant C/- del 8.0E-06 0.700 0