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: rs1555742087
rs1555742087
2 1.000 18 33738757 frameshift variant G/- delins 0.700 1.000 9 2011 2017
dbSNP: rs1555742500
rs1555742500
3 0.925 18 33739379 frameshift variant GACA/- delins 0.700 1.000 9 2011 2017
dbSNP: rs1555743005
rs1555743005
2 1.000 18 33740445 splice donor variant T/A snv 0.700 1.000 9 2011 2017