Source: INFERRED ×
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: rs12401738
rs12401738
2 1 77981077 intron variant G/A snv 0.26 0.700 1.000 3 2015 2017
dbSNP: rs4130548
rs4130548
5 1.000 0.040 1 77998184 intron variant T/C snv 0.25 0.700 1.000 2 2017 2018
dbSNP: rs34517439
rs34517439
7 0.882 0.120 1 77984833 intron variant C/A snv 7.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs540742
rs540742
1 1 78119402 missense variant T/C snv 0.24 0.22 0.700 1.000 1 2018 2018