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: rs776641008
rs776641008
MCCC1
1 1.000 0.120 3 183020102 splice donor variant TCATTCTACAGATGTCATGTGATTACCTTTTCA/- delins 0.700 1.000 3 2001 2012
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: 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: 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: 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: rs398124350
rs398124350
MCCC1
1 1.000 0.120 3 183045422 frameshift variant C/- 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: rs887877405
rs887877405
MCCC1
1 1.000 0.120 3 183041699 missense variant C/T snv 0.700 0
dbSNP: rs920162850
rs920162850
MCCC1
1 1.000 0.120 3 183086719 stop gained G/A 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: 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: rs748201122
rs748201122
MCCC1
1 1.000 0.120 3 183071310 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs794727036
rs794727036
MCCC1
1 1.000 0.120 3 183041695 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs796051985
rs796051985
MCCC1
1 1.000 0.120 3 183041640 frameshift variant CA/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs398124352
rs398124352
MCCC1
1 1.000 0.120 3 183039088 missense variant C/A;G;T snv 3.2E-05; 4.0E-06; 8.0E-06 0.700 1.000 11 2001 2016
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