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: rs1555813319
rs1555813319
1 1.000 0.040 20 44406208 missense variant G/A snv 0.700 0
dbSNP: rs587777732
rs587777732
9 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0
dbSNP: rs776489992
rs776489992
1 1.000 0.040 20 44424133 inframe deletion TGC/-;TGCTGC delins 1.4E-04 0.700 0