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: rs28939080
rs28939080
2 0.925 0.080 5 14713644 missense variant C/T snv 0.800 1.000 2 2001 2001
dbSNP: rs121908405
rs121908405
1 1.000 0.080 5 14716716 inframe deletion AAG/- delins 0.700 0
dbSNP: rs121908406
rs121908406
1 1.000 0.080 5 14716721 inframe deletion GAG/- delins 0.700 0
dbSNP: rs267606656
rs267606656
1 1.000 0.080 5 14716832 missense variant A/G snv 0.700 0
dbSNP: rs267606657
rs267606657
1 1.000 0.080 5 14741837 missense variant A/C snv 0.700 0
dbSNP: rs267606658
rs267606658
1 1.000 0.080 5 14713637 missense variant A/G snv 0.700 0
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2007 2009
dbSNP: rs104894681
rs104894681
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs764670582
rs764670582
5 0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2013 2013