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: rs786204747
rs786204747
MLC1
1 1.000 0.200 22 50080017 frameshift variant A/- delins 4.0E-06 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs794729233
rs794729233
MLC1
1 1.000 0.200 22 50083128 frameshift variant C/- del 0.700 1.000 1 2006 2006
dbSNP: rs1057516286
rs1057516286
MLC1
1 1.000 0.200 22 50084819 stop gained -/T delins 0.700 0
dbSNP: rs1057516336
rs1057516336
MLC1
1 1.000 0.200 22 50080393 frameshift variant AT/- del 0.700 0
dbSNP: rs1057516465
rs1057516465
MLC1
1 1.000 0.200 22 50064120 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1057517228
rs1057517228
MLC1
1 1.000 0.200 22 50084836 stop gained G/A snv 0.700 0
dbSNP: rs1057517375
rs1057517375
MLC1
1 1.000 0.200 22 50074305 frameshift variant CA/- del 0.700 0
dbSNP: rs1114167286
rs1114167286
MLC1
1 1.000 0.200 22 50074313 missense variant C/A snv 0.700 0
dbSNP: rs1555962581
rs1555962581
MLC1
1 1.000 0.200 22 50061585 stop lost A/G;T snv 0.700 0
dbSNP: rs1555963392
rs1555963392
MLC1
1 1.000 0.200 22 50064033 splice donor variant C/T snv 0.700 0
dbSNP: rs1555967644
rs1555967644
MLC1
1 1.000 0.200 22 50079810 splice donor variant TGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGAC/- del 0.700 0
dbSNP: rs1555968785
rs1555968785
MLC1
1 1.000 0.200 22 50084861 frameshift variant C/- delins 0.700 0
dbSNP: rs1565339091
rs1565339091
HEPACAM ; LOC107984406
4 1.000 0.200 11 124924796 missense variant T/C snv 0.700 0
dbSNP: rs267607236
rs267607236
MLC1
1 1.000 0.200 22 50076841 frameshift variant GAGT/- delins 8.0E-06 0.700 0
dbSNP: rs387907050
rs387907050
HEPACAM ; LOC107984406
2 0.925 0.200 11 124924880 missense variant C/T snv 0.700 0
dbSNP: rs387907053
rs387907053
HEPACAM ; LOC107984406
2 0.925 0.200 11 124924890 missense variant C/T snv 0.700 0
dbSNP: rs387907055
rs387907055
HEPACAM ; LOC107984406
2 0.925 0.200 11 124924881 missense variant G/A snv 0.700 0
dbSNP: rs764754702
rs764754702
MLC1
1 1.000 0.200 22 50064190 stop gained G/A;C snv 5.7E-05 7.0E-05 0.700 0
dbSNP: rs765879182
rs765879182
MLC1
1 1.000 0.200 22 50080343 splice donor variant C/A;T snv 8.4E-06 0.700 0
dbSNP: rs769135961
rs769135961
MLC1
1 1.000 0.200 22 50077400 splice donor variant C/T snv 8.0E-06 0.700 0
dbSNP: rs779971307
rs779971307
MLC1
1 1.000 0.200 22 50061630 missense variant C/T snv 4.0E-05 3.5E-05 0.700 0