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: rs1557612048
rs1557612048
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
dbSNP: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1566823361
rs1566823361
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs199469465
rs199469465
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs587784105
rs587784105
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
dbSNP: rs875989802
rs875989802
6 0.882 0.080 X 41344278 missense variant G/A snv 0.700 0
dbSNP: rs527656756
rs527656756
21 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 0.700 1.000 1 2017 2017