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: 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: rs779971307
rs779971307
MLC1
1 1.000 0.200 22 50061630 missense variant C/T snv 4.0E-05 3.5E-05 0.700 0
dbSNP: rs1555967668
rs1555967668
MLC1
1 1.000 0.200 22 50079915 splice donor variant -/A delins 0.700 1.000 3 2001 2017
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
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: 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: 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: 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: 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: rs1057516336
rs1057516336
MLC1
1 1.000 0.200 22 50080393 frameshift variant AT/- del 0.700 0
dbSNP: rs1057517375
rs1057517375
MLC1
1 1.000 0.200 22 50074305 frameshift variant CA/- del 0.700 0
dbSNP: rs1555968785
rs1555968785
MLC1
1 1.000 0.200 22 50084861 frameshift variant C/- delins 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: 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: rs1555962581
rs1555962581
MLC1
1 1.000 0.200 22 50061585 stop lost A/G;T snv 0.700 0