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: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 5 2009 2018
dbSNP: rs7137828
rs7137828
15 0.763 0.200 12 111494996 intron variant C/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs597808
rs597808
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 1 2018 2018