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: rs1556425596
rs1556425596
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs1208636573
rs1208636573
15 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1555358382
rs1555358382
6 14 54844115 stop gained G/A snv 0.700 0
dbSNP: rs1555740650
rs1555740650
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs765061840
rs765061840
6 0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs767350733
rs767350733
7 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs1557055405
rs1557055405
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs387906905
rs387906905
10 0.882 0.120 12 109798819 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs778361520
rs778361520
9 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs1057518874
rs1057518874
4 15 44598738 missense variant C/A snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1247665387
rs1247665387
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs201689565
rs201689565
5 1.000 0.080 15 44584299 missense variant A/G snv 4.8E-05 1.0E-04 0.700 0
dbSNP: rs371334506
rs371334506
5 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
dbSNP: rs622288
rs622288
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs864321670
rs864321670
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs1202430946
rs1202430946
17 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
dbSNP: rs1553511224
rs1553511224
10 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
dbSNP: rs1555727493
rs1555727493
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs1555630216
rs1555630216
22 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555648288
rs1555648288
22 0.790 0.160 18 10795003 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1559470315
rs1559470315
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0