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: rs1226171550
rs1226171550
2 1.000 0.120 3 121993717 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs1559875009
rs1559875009
2 1.000 0.120 3 122001311 stop gained C/A snv 0.700 0
dbSNP: rs775062249
rs775062249
2 1.000 0.120 3 121993365 stop gained G/A snv 3.6E-05 7.0E-06 0.700 0
dbSNP: rs1172585670
rs1172585670
1 3 121993482 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs387907015
rs387907015
2 1.000 0.120 3 121993614 stop gained C/A snv 0.010 1.000 1 2011 2011