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: rs121912628
rs121912628
2 1.000 0.200 5 132618182 stop gained C/G;T snv 1.6E-05 2.8E-05 0.700 1.000 4 2009 2017
dbSNP: rs760146707
rs760146707
2 1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04 0.700 1.000 4 2003 2015
dbSNP: rs149201802
rs149201802
2 1.000 0.200 5 132594950 stop gained C/G;T snv 8.0E-05; 5.6E-05 0.700 1.000 2 2008 2015
dbSNP: rs1060501941
rs1060501941
2 1.000 0.200 5 132609388 frameshift variant CACA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1247689593
rs1247689593
2 1.000 0.200 5 132588728 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587782895
rs587782895
2 1.000 0.200 5 132604020 frameshift variant AA/- del 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs121912629
rs121912629
1 1.000 0.200 5 132642364 stop lost A/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1554096791
rs1554096791
1 1.000 0.200 5 132559336 frameshift variant C/- delins 0.700 0
dbSNP: rs1554098250
rs1554098250
2 1.000 0.200 5 132588806 frameshift variant CAGA/- delins 0.700 0
dbSNP: rs1561635887
rs1561635887
2 1.000 0.200 5 132579402 frameshift variant -/TA delins 0.700 0
dbSNP: rs397507178
rs397507178
2 1.000 0.200 5 132595760 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs587782090
rs587782090
2 1.000 0.200 5 132587942 stop gained G/T snv 0.700 0
dbSNP: rs772468452
rs772468452
2 1.000 0.200 5 132595719 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs876659005
rs876659005
2 1.000 0.200 5 132579868 frameshift variant -/A delins 0.700 0
dbSNP: rs878854799
rs878854799
2 1.000 0.200 5 132638094 frameshift variant AGAAATA/- del 0.700 0