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: rs199925463
rs199925463
1 1.000 15 40729620 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs34091239
rs34091239
1 1.000 15 40729928 frameshift variant A/-;AA delins 0.700 1.000 1 2011 2011
dbSNP: rs1555429623
rs1555429623
1 1.000 15 40729609 missense variant G/A snv 0.700 0