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: rs387907151
rs387907151
2 0.925 0.160 19 55165904 missense variant A/G snv 0.800 1.000 1 2012 2012
dbSNP: rs1349668884
rs1349668884
2 1.000 0.160 19 55159416 frameshift variant -/T delins 0.700 0
dbSNP: rs387907152
rs387907152
3 0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs397515395
rs397515395
2 0.925 0.160 19 55161684 frameshift variant -/A delins 7.3E-06; 7.3E-06 0.700 0
dbSNP: rs770403610
rs770403610
2 1.000 0.160 19 55162263 stop gained C/T snv 2.1E-05 0.700 0