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: rs1057520695
rs1057520695
MCCC1
1 1.000 0.120 3 183092514 missense variant G/C snv 0.700 1.000 11 2001 2016
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: rs119103213
rs119103213
MCCC1
1 1.000 0.120 3 183041679 missense variant T/G snv 1.3E-04 7.7E-05 0.800 1.000 9 2001 2015
dbSNP: rs119103214
rs119103214
MCCC1
1 1.000 0.120 3 183037218 missense variant C/G snv 0.700 0
dbSNP: rs119103215
rs119103215
MCCC1
1 1.000 0.120 3 183039093 missense variant A/G snv 0.700 0
dbSNP: rs119103216
rs119103216
MCCC1
1 1.000 0.120 3 183034068 missense variant G/A snv 0.700 0
dbSNP: rs119103218
rs119103218
MCCC1
1 1.000 0.120 3 183037432 missense variant A/C snv 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: rs1311374961
rs1311374961
MCCC1
1 1.000 0.120 3 183092510 frameshift variant CT/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1326114075
rs1326114075
MCCC1
1 1.000 0.120 3 183057318 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1333357031
rs1333357031
MCCC1
1 1.000 0.120 3 183041687 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1394547323
rs1394547323
MCCC1
1 1.000 0.120 3 183033992 frameshift variant -/T delins 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs1484347924
rs1484347924
MCCC1
1 1.000 0.120 3 183041609 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2006 2006
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: rs1553850609
rs1553850609
MCCC1
1 1.000 0.120 3 183022454 frameshift variant TTCGCTTTACTAGC/- delins 0.700 0
dbSNP: rs1553856095
rs1553856095
MCCC1
1 1.000 0.120 3 183045508 frameshift variant AT/- delins 0.700 0
dbSNP: rs1560224024
rs1560224024
MCCC1
1 1.000 0.120 3 183041571 frameshift variant GTACTCC/- delins 0.700 0
dbSNP: rs1560256569
rs1560256569
MCCC1
1 1.000 0.120 3 183071018 stop gained TCTC/GCTATGCTAT delins 0.700 0
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: 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: 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: 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: 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: rs201386261
rs201386261
MCCC1
1 1.000 0.120 3 183041738 missense variant C/T snv 2.4E-05 0.700 1.000 11 2001 2016
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