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: rs1060502224
rs1060502224
1 1.000 0.080 8 64596876 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs1558119445
rs1558119445
1 1.000 0.080 1 228157841 frameshift variant -/AC delins 0.700 1.000 3 2004 2010
dbSNP: rs863223926
rs863223926
2 0.925 0.080 12 123253769 frameshift variant -/ATCC delins 0.700 0
dbSNP: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
3 0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 0.700 1.000 1 2017 2017
dbSNP: rs950356390
rs950356390
1 1.000 0.080 14 67783037 frameshift variant -/GCCCTTC ins 7.0E-06 0.700 0
dbSNP: rs754944429
rs754944429
1 1.000 0.080 15 50997722 frameshift variant -/TATGT ins 3.2E-05; 8.0E-06 0.700 0
dbSNP: rs281865117
rs281865117
2 0.925 0.160 13 23335032 frameshift variant A/- del 6.4E-05 1.4E-05 0.700 1.000 2 2000 2001
dbSNP: rs767164213
rs767164213
2 0.925 0.160 14 67786112 splice donor variant A/C snv 1.6E-05 0.700 1.000 2 2008 2009
dbSNP: rs142375870
rs142375870
MAG
3 0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs878854975
rs878854975
2 0.925 0.120 12 6464888 splice donor variant A/C snv 0.700 0
dbSNP: rs587776888
rs587776888
2 0.925 0.160 1 228149860 upstream gene variant A/G snv 0.700 1.000 5 2010 2014
dbSNP: rs121434441
rs121434441
3 0.882 0.240 12 57569015 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1331505548
rs1331505548
2 0.925 0.200 2 148949891 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs121434443
rs121434443
2 0.925 0.120 12 57569263 missense variant A/G snv 0.700 0
dbSNP: rs66864704
rs66864704
10 0.882 0.280 16 16188907 missense variant A/G snv 1.2E-04 3.6E-04 0.700 0
dbSNP: rs121908613
rs121908613
3 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.700 0
dbSNP: rs1566055368
rs1566055368
1 1.000 0.080 13 23330968 stop gained A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs397514513
rs397514513
4 0.882 0.080 4 107945426 missense variant A/T snv 0.700 0
dbSNP: rs773182375
rs773182375
1 1.000 0.080 13 23336670 frameshift variant AA/- del 1.4E-05 0.700 1.000 2 2010 2011
dbSNP: rs1060503431
rs1060503431
1 1.000 0.080 13 23334312 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs759033144
rs759033144
1 1.000 0.080 4 107947399 frameshift variant AG/- delins 1.2E-05 2.1E-05 0.700 0
dbSNP: rs878855083
rs878855083
1 1.000 0.080 16 74716564 frameshift variant AG/- del 4.7E-06 0.700 0
dbSNP: rs1006060877
rs1006060877
1 1.000 0.080 13 23354743 frameshift variant C/- del 1.4E-05 0.700 0
dbSNP: rs878855013
rs878855013
1 1.000 0.080 14 67769731 splice acceptor variant C/- del 0.700 0
dbSNP: rs772400670
rs772400670
3 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016