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: rs748653573
rs748653573
3 0.882 0.080 3 41238067 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.800 0
dbSNP: rs1057519380
rs1057519380
2 0.925 0.080 3 41239137 stop gained -/TAGCTATCGTTCTTTT delins 0.700 0
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0