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: rs121912629
rs121912629
1 1.000 0.200 5 132642364 stop lost A/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs878854799
rs878854799
2 1.000 0.200 5 132638094 frameshift variant AGAAATA/- del 0.700 0