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: rs2942194
rs2942194
3 8 23566156 missense variant A/G snv 0.25 0.21 0.700 1.000 2 2016 2019
dbSNP: rs10503728
rs10503728
2 8 23563489 intron variant A/C;G snv 0.700 1.000 1 2017 2017