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: rs397516484
rs397516484
5 0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs45586240
rs45586240
7 0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs730881119
rs730881119
1 1 201359629 frameshift variant -/G delins 0.700 0
dbSNP: rs1060500235
rs1060500235
1 1 201365657 missense variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs121964856
rs121964856
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs863225119
rs863225119
5 0.882 0.080 1 201359632 missense variant T/A snv 0.010 1.000 1 2011 2011