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: rs281865082
rs281865082
HPS1
2 0.925 0.200 10 98427230 frameshift variant G/-;GG delins 1.3E-04 0.700 1.000 5 1996 2019
dbSNP: rs201227603
rs201227603
HPS3
2 0.925 0.200 3 149145547 splice donor variant G/A snv 8.0E-05 4.9E-05 0.700 1.000 2 2001 2015
dbSNP: rs281865163
rs281865163
HPS1
2 0.925 0.200 10 98423797 frameshift variant -/CTCCCCTGCTGGGGGC delins 2.8E-05 3.6E-04 0.700 1.000 2 1996 2011
dbSNP: rs121908385
rs121908385
HPS1
2 0.925 0.200 10 98417671 stop gained C/A;T snv 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1564899012
rs1564899012
HPS6
1 1.000 0.200 10 102065756 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs281865084
rs281865084
HPS1
2 0.925 0.200 10 98425687 frameshift variant G/- delins 7.2E-05 1.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs281865088
rs281865088
HPS1
1 1.000 0.200 10 98420160 splice acceptor variant T/G snv 1.2E-05 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs281865108
rs281865108
HPS6
2 0.925 0.200 10 102065710 frameshift variant -/G delins 0.700 1.000 1 2019 2019
dbSNP: rs752074481
rs752074481
DTNBP1
1 1.000 0.200 6 15523011 frameshift variant CTCT/-;CT delins 1.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs766602179
rs766602179
HPS5
2 0.925 0.200 11 18296885 frameshift variant G/- delins 8.0E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs886041723
rs886041723
HPS5
2 0.925 0.200 11 18283871 frameshift variant AACA/- delins 0.700 1.000 1 2019 2019
dbSNP: rs104893945
rs104893945
DTNBP1
2 0.925 0.200 6 15627391 stop gained G/A snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs119471021
rs119471021
HPS4
2 0.925 0.200 22 26457923 stop gained G/A snv 0.700 0
dbSNP: rs119471022
rs119471022
HPS4
3 0.925 0.200 22 26470774 stop gained G/A;T snv 0.700 0
dbSNP: rs119471023
rs119471023
HPS4
2 0.925 0.200 22 26468571 stop gained G/A;C snv 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs119471024
rs119471024
HPS4
2 0.925 0.200 22 26472391 stop gained C/A snv 0.700 0
dbSNP: rs119471025
rs119471025
HPS4
2 0.925 0.200 22 26468556 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121908316
rs121908316
HPS3
2 0.925 0.200 3 149150624 missense variant C/T snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs121908386
rs121908386
HPS1
2 0.925 0.200 10 98435273 stop gained C/A;T snv 3.6E-05 0.700 0
dbSNP: rs121908904
rs121908904
AP3B1
2 0.925 0.200 5 78129219 missense variant A/C snv 0.700 0
dbSNP: rs121908906
rs121908906
AP3B1
2 0.925 0.200 5 78141268 stop gained G/A snv 0.700 0
dbSNP: rs121908907
rs121908907
AP3B1
2 0.925 0.200 5 78116228 stop gained C/A snv 0.700 0
dbSNP: rs1554072100
rs1554072100
AP3B1
2 0.925 0.200 5 78165610 splice acceptor variant GAAATTCTCGAAGAAGAGTTGATATGTTGGCTTCATTTGCCAAGTTTGTCAAAATTTCAAGCT/- delins 0.700 0
dbSNP: rs201348482
rs201348482
BLOC1S6
2 0.925 0.200 15 45603107 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs281865073
rs281865073
HPS1
1 1.000 0.200 10 98435722 inframe deletion TGA/- delins 1.4E-05 0.700 0