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: rs587783672
rs587783672
5 0.882 0.080 11 17387413 missense variant C/T snv 4.0E-06 0.810 1.000 2 2012 2017
dbSNP: rs1564865302
rs1564865302
2 0.925 0.040 11 17387395 missense variant G/A snv 0.700 1.000 4 2011 2016
dbSNP: rs1554901596
rs1554901596
2 0.925 0.080 11 17387124 frameshift variant -/C delins 0.700 0
dbSNP: rs267607196
rs267607196
5 0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs80356610
rs80356610
6 0.827 0.080 11 17387968 missense variant A/G snv 0.700 0