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: rs1561424886
rs1561424886
1 1.000 0.120 5 35874447 splice acceptor variant A/G snv 0.700 0
dbSNP: rs193922640
rs193922640
1 1.000 0.120 5 35867354 frameshift variant -/ATATATTTCA delins 0.700 0
dbSNP: rs193922641
rs193922641
3 0.882 0.120 5 35867437 missense variant G/A snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs193922642
rs193922642
1 1.000 0.120 5 35873481 missense variant A/C;G snv 4.8E-05 0.700 0
dbSNP: rs193922643
rs193922643
1 1.000 0.120 5 35873558 stop gained CG/TA mnv 0.700 0
dbSNP: rs193922645
rs193922645
1 1.000 0.120 5 35873586 missense variant G/T snv 0.700 0
dbSNP: rs193922647
rs193922647
1 1.000 0.120 5 35875988 stop lost A/C snv 0.700 0
dbSNP: rs104893894
rs104893894
2 0.925 0.120 5 35871070 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000