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: rs397508101
rs397508101
1 11 2847812 inframe deletion CCA/- delins 0.700 0
dbSNP: rs1800172
rs1800172
4 0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03 0.020 1.000 2 2014 2018