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: rs7134677
rs7134677
3 12 54047714 intron variant C/T snv 0.29 0.700 1.000 2 2018 2019
dbSNP: rs10876531
rs10876531
1 12 54049934 intron variant A/C snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs12319419
rs12319419
2 12 54026992 intron variant G/C snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs4759319
rs4759319
4 12 54030947 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4759320
rs4759320
3 12 54039227 intron variant G/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs7297416
rs7297416
2 12 54049306 intron variant A/C snv 0.34 0.700 1.000 1 2017 2017