Source: ALL
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: rs121918338
rs121918338
7 0.807 0.160 9 136370362 stop gained G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs398122363
rs398122363
5 0.827 0.120 9 136370380 stop gained G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs921151054
rs921151054
3 0.925 0.080 9 136371375 missense variant A/G snv 2.2E-05 2.1E-05 0.010 1.000 1 2020 2020