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: rs1744297
rs1744297
ASPG
12 14 104102135 intron variant T/C snv 0.86 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: rs588682
rs588682
DLGAP1
2 18 3558080 intron variant G/A snv 0.71 0.700 1.000 1 2019 2019