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: rs750484977
rs750484977
MCCC1
1 1.000 0.120 3 183045516 stop gained G/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs119103212
rs119103212
MCCC1
2 0.925 0.120 3 183045522 missense variant A/C snv 1.6E-05 5.6E-05 0.800 1.000 3 2001 2015
dbSNP: rs150862707
rs150862707
MCCC1
1 1.000 0.120 3 183052169 stop gained A/G;T snv 4.1E-04; 1.2E-05 0.700 0
dbSNP: rs201041864
rs201041864
MCCC1
1 1.000 0.120 3 183057312 missense variant G/A snv 1.4E-04 1.0E-04 0.700 1.000 11 2001 2016
dbSNP: rs1326114075
rs1326114075
MCCC1
1 1.000 0.120 3 183057318 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs746500530
rs746500530
MCCC1
1 1.000 0.120 3 183057321 missense variant T/C snv 2.5E-05 1.4E-05 0.700 1.000 11 2001 2016
dbSNP: rs754437245
rs754437245
MCCC1
1 1.000 0.120 3 183057342 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs185741664
rs185741664
MCCC1
1 1.000 0.120 3 183057343 stop gained G/A snv 4.5E-05 2.1E-05 0.700 0
dbSNP: rs773433541
rs773433541
MCCC1
1 1.000 0.120 3 183057358 missense variant A/C;G snv 8.1E-06 0.700 0
dbSNP: rs1560256569
rs1560256569
MCCC1
1 1.000 0.120 3 183071018 stop gained TCTC/GCTATGCTAT delins 0.700 0
dbSNP: rs727504004
rs727504004
MCCC1
1 1.000 0.120 3 183071066 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs886058209
rs886058209
MCCC1
1 1.000 0.120 3 183071119 splice acceptor variant CC/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs772395858
rs772395858
MCCC1
1 1.000 0.120 3 183071122 splice acceptor variant T/C snv 8.0E-06 0.700 1.000 4 2001 2016
dbSNP: rs199914879
rs199914879
MCCC1
1 1.000 0.120 3 183071208 splice donor variant A/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs186209189
rs186209189
MCCC1
1 1.000 0.120 3 183071223 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs757362635
rs757362635
MCCC1
1 1.000 0.120 3 183071290 missense variant A/G;T snv 2.4E-05; 1.2E-05 0.700 0
dbSNP: rs748201122
rs748201122
MCCC1
1 1.000 0.120 3 183071310 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1229069160
rs1229069160
MCCC1
1 1.000 0.120 3 183072457 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs202197951
rs202197951
MCCC1
1 1.000 0.120 3 183072469 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 11 2001 2016
dbSNP: rs920162850
rs920162850
MCCC1
1 1.000 0.120 3 183086719 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs754460336
rs754460336
MCCC1
1 1.000 0.120 3 183092486 missense variant G/A snv 6.4E-05 5.6E-05 0.700 0
dbSNP: rs1311374961
rs1311374961
MCCC1
1 1.000 0.120 3 183092510 frameshift variant CT/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1057520695
rs1057520695
MCCC1
1 1.000 0.120 3 183092514 missense variant G/C snv 0.700 1.000 11 2001 2016
dbSNP: rs199517715
rs199517715
MCCC1
1 1.000 0.120 3 183092545 missense variant C/T snv 4.0E-05 3.5E-05 0.700 1.000 11 2001 2016
dbSNP: rs762463914
rs762463914
MCCC1
1 1.000 0.120 3 183099440 start lost T/C snv 1.8E-05 3.5E-05 0.700 0