Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121964999
rs121964999
DBT
0.882 0.120 1 100214929 missense variant A/C snv 1.1E-04 1.0E-04
CUI: C4016440
Disease: MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II 		0.700 0
dbSNP: rs121965002
rs121965002
DBT
1.000 1 100196349 missense variant T/C snv
CUI: C4016440
Disease: MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II 		0.700 0
dbSNP: rs121965003
rs121965003
DBT
1.000 0.120 1 100216174 stop gained G/C snv
CUI: C1855371
Disease: MAPLE SYRUP URINE DISEASE, TYPE II
MAPLE SYRUP URINE DISEASE, TYPE II 		0.700 0
dbSNP: rs1553228653
rs1553228653
DBT
1.000 0.120 1 100196424 splice acceptor variant TAGA/- del
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs1553229661
rs1553229661
DBT
1.000 0.120 1 100206488 frameshift variant TG/- delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs1553231037
rs1553231037
DBT
1.000 0.120 1 100218625 splice donor variant C/T snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs1553232188
rs1553232188
DBT
1.000 0.120 1 100230855 missense variant T/C snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs1553232197
rs1553232197
DBT
1.000 0.120 1 100230889 frameshift variant CTGTATCTCCTTCTTTTACA/- delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs1553233152
rs1553233152
DBT
1.000 0.120 1 100240794 stop gained TA/- delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs1557943881
rs1557943881
DBT
1.000 0.120 1 100206229 splice donor variant C/A snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs201559874
rs201559874
DBT
1.000 0.120 1 100216030 stop gained G/C;T snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs398123660
rs398123660
DBT
1.000 0.120 1 100196413 stop gained G/A snv 8.4E-06 1.9E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs398123668
rs398123668
DBT
1.000 0.120 1 100230806 frameshift variant T/-;TT delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs748851630
rs748851630
DBT
1.000 0.120 1 100216085 frameshift variant CAACTTTG/- del 4.0E-06
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs754004231
rs754004231
DBT
1.000 0.120 1 100218748 splice acceptor variant C/T snv 4.0E-06
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs768832921
rs768832921
DBT
0.925 0.120 1 100240860 frameshift variant AT/- del 6.8E-05 4.2E-05
CUI: C1855371
Disease: MAPLE SYRUP URINE DISEASE, TYPE II
MAPLE SYRUP URINE DISEASE, TYPE II 		0.700 0
dbSNP: rs770981889
rs770981889
DBT
1.000 0.120 1 100214854 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs775808731
rs775808731
DBT
1.000 0.120 1 100214884 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs794727262
rs794727262
DBT
1.000 0.120 1 100240810 stop gained A/C snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs796052134
rs796052134
DBT
1.000 0.120 1 100210693 splice donor variant C/- delins
CUI: C1855371
Disease: MAPLE SYRUP URINE DISEASE, TYPE II
MAPLE SYRUP URINE DISEASE, TYPE II 		0.700 0
dbSNP: rs869312132
rs869312132
DBT
1.000 0.120 1 100206621 missense variant C/T snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 0
dbSNP: rs121964999
rs121964999
DBT
0.882 0.120 1 100214929 missense variant A/C snv 1.1E-04 1.0E-04
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 1.000 7 1991 2014
dbSNP: rs768832921
rs768832921
DBT
0.925 0.120 1 100240860 frameshift variant AT/- del 6.8E-05 4.2E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 1.000 5 1993 2017
dbSNP: rs185492864
rs185492864
DBT
0.925 0.120 1 100214855 missense variant G/A;C snv 5.1E-04; 8.0E-06
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.710 1.000 4 2010 2016
dbSNP: rs12021720
rs12021720
DBT
0.925 0.160 1 100206504 missense variant T/A;C snv 0.92
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 1.000 3 1991 2014