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: rs1562206791
rs1562206791
2 0.925 0.080 5 177210250 frameshift variant A/- delins 0.700 0
dbSNP: rs587784115
rs587784115
2 0.925 0.080 5 177244271 splice donor variant G/A snv 0.700 0
dbSNP: rs587784170
rs587784170
2 0.925 0.080 5 177282537 stop gained C/T snv 0.700 0
dbSNP: rs794727176
rs794727176
3 0.882 0.080 5 177269630 stop gained C/T snv 0.700 0