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: rs1564919048
rs1564919048
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs1554438441
rs1554438441
5 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0
dbSNP: rs1554844486
rs1554844486
10 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1553200431
rs1553200431
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0