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: rs386834009
rs386834009
1 1.000 0.080 17 59061086 missense variant C/A snv 0.810 1.000 8 2000 2013
dbSNP: rs121908391
rs121908391
1 1.000 0.080 17 59084045 missense variant C/G snv 0.800 1.000 8 2000 2013
dbSNP: rs386834004
rs386834004
1 1.000 0.080 17 59088345 missense variant A/G snv 8.0E-06 0.800 1.000 8 2000 2013
dbSNP: rs373520509
rs373520509
1 1.000 0.080 17 59088391 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs386833416
rs386833416
1 1.000 0.080 17 59028460 frameshift variant C/- delins 3.6E-05 4.2E-05 0.700 0
dbSNP: rs386833999
rs386833999
1 1.000 0.080 17 59057033 frameshift variant -/ATCT delins 0.700 0
dbSNP: rs386834000
rs386834000
1 1.000 0.080 17 59049361 frameshift variant -/T delins 0.700 0
dbSNP: rs386834001
rs386834001
1 1.000 0.080 17 59049297 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs386834002
rs386834002
1 1.000 0.080 17 59031949 frameshift variant CT/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs386834003
rs386834003
1 1.000 0.080 17 59028616 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs386834006
rs386834006
1 1.000 0.080 17 59064406 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs386834007
rs386834007
1 1.000 0.080 17 59064373 frameshift variant AAGTA/- delins 0.700 0
dbSNP: rs386834008
rs386834008
1 1.000 0.080 17 59064355 missense variant C/T snv 8.6E-06 0.700 0