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: rs1057518791
rs1057518791
7 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
dbSNP: rs1057518871
rs1057518871
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
dbSNP: rs112550005
rs112550005
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs121918467
rs121918467
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs137854466
rs137854466
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs1443187318
rs1443187318
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
dbSNP: rs1553517323
rs1553517323
4 1.000 2 189085204 missense variant C/A snv 0.700 0
dbSNP: rs1554726245
rs1554726245
4 9 134834982 inframe deletion ACGCCGAGG/- delins 0.700 0
dbSNP: rs1555247672
rs1555247672
14 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
dbSNP: rs1555398397
rs1555398397
10 0.807 0.240 15 48485436 missense variant C/T snv 0.700 0
dbSNP: rs796052571
rs796052571
6 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0