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: rs727502787
rs727502787
1 1.000 10 102402267 missense variant A/G snv 0.800 1.000 1 2014 2014
dbSNP: rs727502788
rs727502788
1 1.000 10 102402273 missense variant C/T snv 0.800 1.000 1 2014 2014
dbSNP: rs397514332
rs397514332
1 1.000 10 102402138 stop gained C/G;T snv 5.3E-06 0.700 1.000 3 2014 2015
dbSNP: rs1565214594
rs1565214594
1 1.000 10 102402152 frameshift variant CACAG/- delins 0.700 1.000 2 2006 2013
dbSNP: rs727502786
rs727502786
1 1.000 10 102402137 frameshift variant CCGAGACA/- del 1.1E-05 0.700 1.000 1 2014 2014
dbSNP: rs397514331
rs397514331
2 0.925 10 102402144 frameshift variant A/- delins 0.700 0