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: rs121912870
rs121912870
1 1.000 0.080 12 47975971 missense variant C/T snv 0.800 1.000 8 1989 2001
dbSNP: rs121912874
rs121912874
14 0.716 0.400 12 47978329 missense variant G/A snv 0.800 1.000 8 1989 2001
dbSNP: rs121912883
rs121912883
1 1.000 0.080 12 47976043 missense variant C/G snv 0.800 1.000 8 1989 2001
dbSNP: rs121912886
rs121912886
2 0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05 0.800 1.000 8 1989 2001
dbSNP: rs121912867
rs121912867
2 0.925 0.080 12 47982142 missense variant C/T snv 0.700 1.000 8 1989 2001
dbSNP: rs121912879
rs121912879
2 0.925 0.080 12 47980017 missense variant C/G snv 0.700 1.000 8 1989 2001
dbSNP: rs864621973
rs864621973
1 1.000 0.080 12 47977128 stop gained C/A;T snv 4.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs104894948
rs104894948
2 0.925 0.080 X 13716080 missense variant A/G snv 0.700 0
dbSNP: rs104894949
rs104894949
1 1.000 0.080 X 13714501 stop gained G/T snv 0.700 0
dbSNP: rs1193507525
rs1193507525
3 0.925 0.080 12 47980616 missense variant C/T snv 0.700 0
dbSNP: rs121912893
rs121912893
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs122460156
rs122460156
1 1.000 0.080 X 13714439 stop gained G/A snv 0.700 0
dbSNP: rs1316347883
rs1316347883
4 0.851 0.080 10 72007935 missense variant G/A;C snv 6.9E-06 0.700 0
dbSNP: rs1555164872
rs1555164872
1 1.000 0.080 12 47975961 splice acceptor variant ACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG/- del 0.700 0
dbSNP: rs1555167783
rs1555167783
1 1.000 0.080 12 47989236 missense variant C/T snv 0.700 0
dbSNP: rs1565664095
rs1565664095
1 1.000 0.080 12 47973418 missense variant A/G snv 0.700 0
dbSNP: rs1565679062
rs1565679062
1 1.000 0.080 12 47983410 missense variant C/T snv 0.700 0
dbSNP: rs587776748
rs587776748
1 1.000 0.080 X 13719910 frameshift variant AA/- delins 0.700 0
dbSNP: rs587776749
rs587776749
1 1.000 0.080 X 13716580 frameshift variant CA/- delins 0.700 0
dbSNP: rs587776750
rs587776750
1 1.000 0.080 X 13716614 frameshift variant AT/- del 0.700 0
dbSNP: rs587776751
rs587776751
1 1.000 0.080 X 13716053 frameshift variant GTCTT/- delins 0.700 0
dbSNP: rs587776752
rs587776752
1 1.000 0.080 X 13719866 splice region variant C/T snv 0.700 0
dbSNP: rs587776753
rs587776753
1 1.000 0.080 X 13716530 splice region variant A/G snv 0.700 0
dbSNP: rs587776754
rs587776754
1 1.000 0.080 X 13714443 frameshift variant T/- delins 0.700 0
dbSNP: rs587777330
rs587777330
1 1.000 0.080 X 13716098 non coding transcript exon variant TTA/- delins 0.700 0