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: rs3815652
rs3815652
BBS9
3 0.925 0.160 7 33873792 intron variant C/T snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs75444260
rs75444260
PRKAR1B
3 7 635944 intron variant A/G snv 8.5E-02 0.700 1.000 1 2019 2019