Source: ALL
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: rs1060499548
rs1060499548
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1562846694
rs1562846694
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1064797102
rs1064797102
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1344172059
rs1344172059
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs141322087
rs141322087
13 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs148881970
rs148881970
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs1553154130
rs1553154130
18 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
dbSNP: rs1554121443
rs1554121443
29 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1555954284
rs1555954284
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1555955296
rs1555955296
17 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
dbSNP: rs1562927768
rs1562927768
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1569301036
rs1569301036
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs199469464
rs199469464
8 0.807 0.200 16 30737370 stop gained C/T snv 0.700 0
dbSNP: rs555145190
rs555145190
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs759317757
rs759317757
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs875989803
rs875989803
15 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
dbSNP: rs886041095
rs886041095
11 0.827 0.160 12 13571930 missense variant C/T snv 0.700 0