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: rs104893946
rs104893946
1 1.000 0.040 6 79916743 stop gained G/C snv 0.700 0
dbSNP: rs1131690770
rs1131690770
1 1.000 0.040 6 79916759 frameshift variant TTAAG/- delins 0.700 0
dbSNP: rs587776613
rs587776613
1 1.000 0.040 6 79916760 frameshift variant AGTTA/GTT delins 0.700 0