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: rs10512597
rs10512597
4 17 74703694 intron variant T/A;C snv 0.800 1.000 3 2009 2017
dbSNP: rs35489971
rs35489971
2 1.000 0.040 17 74704804 missense variant A/G;T snv 0.73 0.700 1.000 1 2017 2017