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: rs710214
rs710214
2 1 42973611 intron variant C/T snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs710216
rs710216
2 1 42963086 intron variant A/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs710218
rs710218
5 0.882 0.280 1 42961547 intron variant T/A snv 0.38 0.700 1.000 1 2019 2019