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: rs376048533
rs376048533
4 0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05 0.800 1.000 2 2015 2017
dbSNP: rs1553696482
rs1553696482
2 0.925 2 162267342 missense variant A/C snv 0.700 0
dbSNP: rs1558875029
rs1558875029
2 0.925 2 162306761 frameshift variant -/C delins 0.700 0
dbSNP: rs587777446
rs587777446
11 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs923064561
rs923064561
2 0.925 2 162288244 missense variant A/C;G snv 0.700 0