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: rs1427624649
rs1427624649
2 0.925 0.200 17 46171102 stop gained G/A;C snv 7.0E-06 0.700 1.000 5 2012 2016
dbSNP: rs1555574888
rs1555574888
2 1.000 17 46170875 frameshift variant G/- delins 0.700 1.000 5 2012 2016