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: rs1057518915
rs1057518915
1 20 3908191 missense variant G/A snv 0.700 0
dbSNP: rs753376100
rs753376100
1 20 3910664 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs1554967761
rs1554967761
2 1.000 0.040 11 65525924 stop gained G/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1424291552
rs1424291552
2 1.000 19 29708423 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1565825132
rs1565825132
2 1.000 0.160 12 64498008 stop gained G/T snv 0.700 0
dbSNP: rs1554967681
rs1554967681
3 0.925 0.040 11 65525631 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1554969925
rs1554969925
3 0.925 0.040 11 65535999 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1554970375
rs1554970375
3 0.925 0.040 11 65537051 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs942522644
rs942522644
3 0.925 0.040 11 65525982 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs200133991
rs200133991
3 0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs730882241
rs730882241
3 1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs397514513
rs397514513
4 0.882 0.080 4 107945426 missense variant A/T snv 0.700 0
dbSNP: rs769235753
rs769235753
4 0.925 0.120 6 73644582 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs796053356
rs796053356
4 0.882 0.160 9 127663344 missense variant G/A snv 0.700 0
dbSNP: rs1553878395
rs1553878395
5 0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 0.700 0
dbSNP: rs1555582065
rs1555582065
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs372949028
rs372949028
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 0