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: rs116840811
rs116840811
2 0.925 0.080 15 82540427 start lost A/C snv 0.710 1.000 1 2010 2010
dbSNP: rs1557020001
rs1557020001
2 0.925 0.080 X 48791127 frameshift variant G/- delins 0.700 1.000 6 1996 2014
dbSNP: rs869066130
rs869066130
1 1.000 0.080 19 41869725 frameshift variant AA/-;A;AAA delins 0.700 1.000 5 1999 2015
dbSNP: rs1569499366
rs1569499366
2 0.925 0.080 X 48791330 splice donor variant G/C snv 0.700 1.000 4 2006 2014
dbSNP: rs1558284033
rs1558284033
4 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 1.000 3 2008 2013
dbSNP: rs1553121795
rs1553121795
1 1.000 0.080 1 23693914 splice donor variant G/A snv 0.700 1.000 2 2008 2010
dbSNP: rs104894189
rs104894189
2 0.925 0.080 10 78035394 stop gained C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs121434389
rs121434389
2 0.925 0.080 1 23693872 stop gained C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs886039545
rs886039545
1 1.000 0.080 10 78033902 start lost A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs104894188
rs104894188
2 0.925 0.080 10 78037230 stop gained C/T snv 0.700 0
dbSNP: rs1060503527
rs1060503527
1 1.000 0.080 1 92833603 stop gained C/G snv 0.700 0
dbSNP: rs1060503688
rs1060503688
1 1.000 0.080 19 41869724 stop gained C/T snv 0.700 0
dbSNP: rs116840806
rs116840806
2 0.925 0.080 10 78035352 stop gained AAC/TACGGATAG delins 0.700 0
dbSNP: rs116840807
rs116840807
2 0.925 0.080 3 197951225 inframe deletion CTT/- delins 0.700 0
dbSNP: rs116840808
rs116840808
2 0.925 0.080 3 197951244 missense variant G/A snv 0.700 0
dbSNP: rs116840809
rs116840809
2 0.925 0.080 3 197954142 stop gained C/T snv 0.700 0
dbSNP: rs116840812
rs116840812
2 0.925 0.080 15 82538939 frameshift variant CT/- delins 0.700 0
dbSNP: rs1553121684
rs1553121684
1 1.000 0.080 1 23692712 frameshift variant C/- delins 0.700 0
dbSNP: rs1553121909
rs1553121909
1 1.000 0.080 1 92834844 frameshift variant -/T delins 0.700 0
dbSNP: rs1554841994
rs1554841994
2 0.925 0.080 10 78035589 missense variant A/C snv 0.700 0
dbSNP: rs1555524354
rs1555524354
5 0.925 0.080 17 7670626 frameshift variant C/- delins 0.700 0
dbSNP: rs1555524370
rs1555524370
5 0.925 0.080 17 7670632 frameshift variant T/- del 0.700 0
dbSNP: rs1555841301
rs1555841301
2 0.925 0.080 19 41869043 missense variant G/A snv 0.700 0
dbSNP: rs1555841356
rs1555841356
1 1.000 0.080 19 41869150 frameshift variant -/TG delins 0.700 0
dbSNP: rs1557020021
rs1557020021
2 0.925 0.080 X 48791198 stop gained C/G snv 0.700 0