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: rs104894538
rs104894538
3 0.882 0.200 16 51141255 stop gained G/A snv 0.700 0
dbSNP: rs1064793257
rs1064793257
1 1.000 0.200 16 51138807 frameshift variant AT/- del 1.4E-05 0.700 0
dbSNP: rs1555475106
rs1555475106
1 1.000 0.200 16 51139866 frameshift variant G/- delins 0.700 0
dbSNP: rs1555475120
rs1555475120
1 1.000 0.200 16 51139966 frameshift variant G/- del 0.700 0
dbSNP: rs1555475275
rs1555475275
1 1.000 0.200 16 51141007 frameshift variant -/G delins 0.700 0
dbSNP: rs1555475334
rs1555475334
1 1.000 0.200 16 51141356 stop gained A/T snv 0.700 0
dbSNP: rs104894537
rs104894537
2 0.925 0.200 16 51141396 stop gained G/A;T snv 1.2E-05 0.710 1.000 2 1999 2002
dbSNP: rs1555475319
rs1555475319
1 1.000 0.200 16 51141264 stop gained G/A snv 0.700 1.000 2 1999 2005
dbSNP: rs1064797092
rs1064797092
1 1.000 0.200 14 58645879 stop gained G/A snv 4.0E-06 0.010 1.000 1 2017 2017