Source: ALL
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: rs199689597
rs199689597
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370103 missense variant C/A;G;T snv 4.1E-06; 2.9E-05 0.700 0
dbSNP: rs28383481
rs28383481
SLC22A5
2 1.000 0.160 5 132393688 missense variant G/A snv 3.2E-03 3.4E-03 0.800 0
dbSNP: rs386134193
rs386134193
SLC22A5
1 1.000 0.160 5 132378435 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 5.2E-05 0.700 0
dbSNP: rs386134199
rs386134199
SLC22A5
1 1.000 0.160 5 132384290 missense variant C/T snv 7.2E-04 1.8E-04 0.800 0
dbSNP: rs386134200
rs386134200
SLC22A5
1 1.000 0.160 5 132384302 splice donor variant G/A;T snv 1.2E-05 0.700 0
dbSNP: rs386134206
rs386134206
SLC22A5
1 1.000 0.160 5 132385367 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs386134215
rs386134215
SLC22A5
1 1.000 0.160 5 132390810 inframe deletion TGC/- delins 0.700 0
dbSNP: rs386134217
rs386134217
SLC22A5
1 1.000 0.160 5 132392467 frameshift variant G/- delins 0.700 0
dbSNP: rs386134222
rs386134222
SLC22A5
1 1.000 0.160 5 132392574 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs386134223
rs386134223
SLC22A5
1 1.000 0.160 5 132392577 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs386134227
rs386134227
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370120 frameshift variant T/- del 0.700 0
dbSNP: rs747592919
rs747592919
SLC22A5
1 1.000 0.160 5 132384146 splice acceptor variant G/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs748605096
rs748605096
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370340 missense variant T/G snv 4.2E-06 2.1E-05 0.700 0
dbSNP: rs762986044
rs762986044
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370106 frameshift variant C/- delins 0.700 0
dbSNP: rs763224132
rs763224132
SLC22A5
1 1.000 0.160 5 132393683 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs766398620
rs766398620
SLC22A5
1 1.000 0.160 5 132394184 splice acceptor variant G/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs772578415
rs772578415
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370049 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs774792831
rs774792831
SLC22A5
1 1.000 0.160 5 132387149 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs774971089
rs774971089
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369973 start lost A/G;T snv 0.700 0
dbSNP: rs775502377
rs775502377
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370043 frameshift variant T/- del 8.0E-06 1.4E-05 0.700 0
dbSNP: rs777004046
rs777004046
SLC22A5
1 1.000 0.160 5 132390688 splice acceptor variant A/C;G snv 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs796052033
rs796052033
SLC22A5
1 1.000 0.160 5 132384263 missense variant T/A;G snv 0.700 0
dbSNP: rs878853248
rs878853248
SLC22A5
1 1.000 0.160 5 132392527 frameshift variant -/C delins 0.700 0
dbSNP: rs878853249
rs878853249
SLC22A5
1 1.000 0.160 5 132385334 stop gained A/T snv 0.700 0
dbSNP: rs151231558
rs151231558
SLC22A5
1 1.000 0.160 5 132378408 missense variant G/A;T snv 1.2E-05; 5.6E-05 0.800 1.000 25 1990 2019