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: rs1553154130
rs1553154130
18 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
dbSNP: rs587776917
rs587776917
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs140047318
rs140047318
3 0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.710 1.000 1 1998 1998
dbSNP: rs771148519
rs771148519
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs587784000
rs587784000
5 0.882 0.120 5 37044480 missense variant G/C;T snv 0.700 0
dbSNP: rs387906836
rs387906836
5 0.851 0.080 6 35503763 missense variant G/A snv 0.700 0
dbSNP: rs1057520063
rs1057520063
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1057518972
rs1057518972
7 0.827 0.200 8 115418359 missense variant C/T snv 0.700 0
dbSNP: rs886040971
rs886040971
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs267607016
rs267607016
3 0.882 0.120 9 91726603 stop gained G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1057519324
rs1057519324
4 0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs776587763
rs776587763
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs137853027
rs137853027
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
dbSNP: rs1565311145
rs1565311145
7 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
dbSNP: rs1565317399
rs1565317399
6 0.882 0.120 11 103122879 stop gained C/T snv 0.700 0
dbSNP: rs371011047
rs371011047
9 0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 0.700 0
dbSNP: rs764926983
rs764926983
9 0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 0.700 0
dbSNP: rs767846762
rs767846762
7 0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 0.700 0
dbSNP: rs775769424
rs775769424
11 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
dbSNP: rs1555154946
rs1555154946
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0