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: rs121912998
rs121912998
3 1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs730880092
rs730880092
DSP
1 6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05 0.700 1.000 1 2010 2010
dbSNP: rs1561686893
rs1561686893
DSP
1 6 7567372 stop gained C/T snv 0.700 0
dbSNP: rs1561690319
rs1561690319
DSP
1 6 7571506 stop gained C/T snv 0.700 0
dbSNP: rs1561698362
rs1561698362
DSP
3 0.925 0.120 6 7580225 frameshift variant ATGAA/- delins 0.700 0
dbSNP: rs1561698714
rs1561698714
DSP
1 6 7580519 frameshift variant -/A delins 0.700 0
dbSNP: rs1561701721
rs1561701721
DSP
1 6 7583201 frameshift variant -/C delins 0.700 0
dbSNP: rs1561702549
rs1561702549
DSP
1 6 7583725 frameshift variant G/CT delins 0.700 0
dbSNP: rs193922668
rs193922668
DSP
1 6 7568551 inframe deletion ATT/- delins 0.700 0
dbSNP: rs193922671
rs193922671
DSP
1 6 7585226 missense variant C/G snv 5.2E-05 4.9E-05 0.700 0
dbSNP: rs28763965
rs28763965
DSP
3 0.925 0.120 6 7580562 stop gained C/A;G;T snv 8.0E-06; 1.7E-03; 4.0E-06 0.700 0
dbSNP: rs397516915
rs397516915
DSP
6 0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs397516955
rs397516955
DSP
9 0.790 0.120 6 7562753 stop gained G/A snv 0.700 0