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: rs1553920374
rs1553920374
1 1.000 4 101032267 missense variant C/T snv 0.800 1.000 2 2017 2018
dbSNP: rs1553923787
rs1553923787
2 1.000 4 101083202 missense variant C/T snv 0.800 1.000 2 2017 2018
dbSNP: rs1553925558
rs1553925558
1 1.000 4 101109063 missense variant T/C snv 0.800 1.000 2 2017 2018
dbSNP: rs1553920376
rs1553920376
1 1.000 4 101032273 stop gained G/A snv 0.700 0
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1553920383
rs1553920383
3 0.925 4 101032350 frameshift variant TC/- delins 0.700 0
dbSNP: rs1560570541
rs1560570541
1 1.000 4 101032315 frameshift variant -/G delins 0.700 0
dbSNP: rs199706529
rs199706529
1 1.000 4 101083203 missense variant G/A;C snv 0.700 0