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: rs2908004
rs2908004
4 1.000 0.040 7 121329715 missense variant G/A;T snv 0.44; 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs3801387
rs3801387
2 7 121334711 intron variant A/C;G snv 0.700 1.000 2 2012 2018