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: rs1555609768
rs1555609768
1 1.000 0.200 17 28527362 splice donor variant G/T snv 0.700 1.000 2 1999 2004
dbSNP: rs104894562
rs104894562
3 0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1567887558
rs1567887558
1 1.000 0.200 17 28535016 frameshift variant GGGCC/CCA delins 0.700 0