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: rs117486637
rs117486637
1 1.000 0.040 6 31358156 upstream gene variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs17192932
rs17192932
1 1.000 0.040 6 31354352 intron variant C/G snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs9265882
rs9265882
5 0.925 0.040 6 31345324 intron variant T/C snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs281864614
rs281864614
1 1.000 0.040 6 31356437 missense variant G/A;C;T snv 0.010 1.000 1 2016 2016