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: rs80358245
rs80358245
MLC1
1 1.000 0.200 22 50080387 missense variant G/A snv 1.7E-05 7.0E-06 0.810 1.000 8 2001 2012
dbSNP: rs281875309
rs281875309
MLC1
1 1.000 0.200 22 50083145 missense variant G/A snv 2.8E-05 1.4E-05 0.810 1.000 6 2001 2012
dbSNP: rs121908345
rs121908345
MLC1
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.800 1.000 10 2001 2013
dbSNP: rs281875317
rs281875317
MLC1
1 1.000 0.200 22 50074296 missense variant C/G;T snv 4.0E-06 0.800 1.000 9 2001 2016
dbSNP: rs80358242
rs80358242
MLC1
1 1.000 0.200 22 50084727 missense variant C/T snv 0.800 1.000 7 2001 2013
dbSNP: rs281875313
rs281875313
MLC1
1 1.000 0.200 22 50064134 missense variant G/A;T snv 1.2E-05 0.800 1.000 6 2001 2012
dbSNP: rs121908343
rs121908343
MLC1
1 1.000 0.200 22 50079918 missense variant G/A;T snv 8.0E-06 0.800 1.000 5 2001 2012
dbSNP: rs121908344
rs121908344
MLC1
1 1.000 0.200 22 50079919 missense variant T/C snv 0.800 1.000 5 2001 2012
dbSNP: rs764669598
rs764669598
MLC1
1 1.000 0.200 22 50068503 missense variant G/T snv 4.0E-06 0.710 1.000 4 2006 2017
dbSNP: rs121908341
rs121908341
MLC1
1 1.000 0.200 22 50068488 missense variant G/A snv 4.0E-06 0.700 1.000 5 2001 2012
dbSNP: rs281875310
rs281875310
MLC1
1 1.000 0.200 22 50083111 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 5 2001 2012
dbSNP: rs281875311
rs281875311
MLC1
1 1.000 0.200 22 50083101 missense variant G/A snv 0.700 1.000 5 2001 2012
dbSNP: rs281875312
rs281875312
MLC1
1 1.000 0.200 22 50070565 missense variant C/G snv 0.700 1.000 5 2001 2012
dbSNP: rs281875314
rs281875314
MLC1
1 1.000 0.200 22 50079968 missense variant A/G snv 0.700 1.000 5 2001 2012
dbSNP: rs281875315
rs281875315
MLC1
1 1.000 0.200 22 50070562 missense variant T/G snv 0.700 1.000 5 2001 2012
dbSNP: rs281875316
rs281875316
MLC1
1 1.000 0.200 22 50079988 missense variant G/A;C snv 1.6E-05 0.700 1.000 5 2001 2012
dbSNP: rs80358241
rs80358241
MLC1
1 1.000 0.200 22 50084767 frameshift variant -/G delins 2.8E-05 0.700 1.000 4 2002 2011
dbSNP: rs1057517090
rs1057517090
MLC1
1 1.000 0.200 22 50077471 frameshift variant AGCAGGA/- del 0.700 1.000 3 2001 2015
dbSNP: rs1555967668
rs1555967668
MLC1
1 1.000 0.200 22 50079915 splice donor variant -/A delins 0.700 1.000 3 2001 2017
dbSNP: rs1057516766
rs1057516766
MLC1
1 1.000 0.200 22 50084767 frameshift variant A/- del 7.0E-06 0.700 1.000 2 2009 2015
dbSNP: rs1555967227
rs1555967227
MLC1
1 1.000 0.200 22 50077478 frameshift variant G/- del 0.700 1.000 2 2015 2015
dbSNP: rs184241759
rs184241759
MLC1
1 1.000 0.200 22 50084838 missense variant C/T snv 4.7E-04 1.5E-04 0.700 1.000 2 2011 2012
dbSNP: rs80358243
rs80358243
MLC1
4 0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 0.700 1.000 2 2006 2013
dbSNP: rs755271052
rs755271052
MLC1
1 1.000 0.200 22 50064199 splice acceptor variant C/G;T snv 4.5E-06 0.700 1.000 1 2003 2003
dbSNP: rs761620701
rs761620701
MLC1
1 1.000 0.200 22 50074215 splice donor variant C/T snv 2.9E-05 7.0E-06 0.700 1.000 1 2006 2006