Source: ALL
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: rs1718302
rs1718302
PAH
2 12 102878908 intron variant G/A snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs1744297
rs1744297
ASPG
12 14 104102135 intron variant T/C snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs17450122
rs17450122
ASCL1
2 12 102960616 upstream gene variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17450273
rs17450273 		4 12 102967601 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2238732
rs2238732
PRODH
7 22 18927834 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6807064
rs6807064
ATP2B2
2 3 10494087 intron variant C/T snv 0.35 0.700 1.000 1 2008 2008
dbSNP: rs78985461
rs78985461
PAH
2 12 102901858 intron variant G/A snv 0.14 0.700 1.000 1 2019 2019