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: rs731839
rs731839
5 19 33408159 intron variant G/A snv 0.63 0.700 1.000 3 2013 2018
dbSNP: rs34940240
rs34940240
1 19 33449757 intron variant GGTGTCC/-;GGTGTCCGGTGTCC delins 0.700 1.000 1 2018 2018
dbSNP: rs4805881
rs4805881
3 19 33405526 intron variant A/C snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs57457691
rs57457691
3 19 33420799 intron variant T/C snv 0.62 0.700 1.000 1 2019 2019