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: rs776641008
rs776641008
MCCC1
1 1.000 0.120 3 183020102 splice donor variant TCATTCTACAGATGTCATGTGATTACCTTTTCA/- delins 0.700 1.000 3 2001 2012
dbSNP: rs905321122
rs905321122
MCCC1
1 1.000 0.120 3 183020177 stop gained C/A;G snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1553850609
rs1553850609
MCCC1
1 1.000 0.120 3 183022454 frameshift variant TTCGCTTTACTAGC/- delins 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: rs119103216
rs119103216
MCCC1
1 1.000 0.120 3 183034068 missense variant G/A snv 0.700 0
dbSNP: rs119103214
rs119103214
MCCC1
1 1.000 0.120 3 183037218 missense variant C/G snv 0.700 0
dbSNP: rs727504002
rs727504002
MCCC1
1 1.000 0.120 3 183037286 frameshift variant C/- del 1.2E-05 2.8E-05 0.700 1.000 2 2005 2012
dbSNP: rs119103218
rs119103218
MCCC1
1 1.000 0.120 3 183037432 missense variant A/C snv 0.700 0
dbSNP: rs768785753
rs768785753
MCCC1
1 1.000 0.120 3 183039072 missense variant C/T snv 2.8E-05 3.5E-05 0.700 1.000 11 2001 2016
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: rs119103215
rs119103215
MCCC1
1 1.000 0.120 3 183039093 missense variant A/G snv 0.700 0
dbSNP: rs376289130
rs376289130
MCCC1
1 1.000 0.120 3 183039101 missense variant A/C;G snv 4.0E-05 1.1E-04 0.700 1.000 11 2001 2016
dbSNP: rs762463137
rs762463137
MCCC1
1 1.000 0.120 3 183041570 frameshift variant -/C delins 4.0E-05; 8.0E-06 2.1E-05 0.700 1.000 2 2001 2005
dbSNP: rs1560224024
rs1560224024
MCCC1
1 1.000 0.120 3 183041571 frameshift variant GTACTCC/- delins 0.700 0
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: rs796051985
rs796051985
MCCC1
1 1.000 0.120 3 183041640 frameshift variant CA/- delins 4.0E-06 1.4E-05 0.700 0
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: rs1333357031
rs1333357031
MCCC1
1 1.000 0.120 3 183041687 missense variant C/T snv 1.4E-05 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: rs887877405
rs887877405
MCCC1
1 1.000 0.120 3 183041699 missense variant C/T snv 0.700 0
dbSNP: rs755328329
rs755328329
MCCC1
1 1.000 0.120 3 183041719 missense variant T/G snv 4.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs544349961
rs544349961
MCCC1
1 1.000 0.120 3 183041720 stop gained G/A snv 2.4E-05 4.9E-05 0.700 1.000 1 2012 2012
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: rs398124350
rs398124350
MCCC1
1 1.000 0.120 3 183045422 frameshift variant C/- delins 0.700 0
dbSNP: rs1553856095
rs1553856095
MCCC1
1 1.000 0.120 3 183045508 frameshift variant AT/- delins 0.700 0