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: rs143346730
rs143346730
CLVS1
1 8 61056966 upstream gene variant A/G snv 4.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs146311338
rs146311338 		1 3 52042162 upstream gene variant C/T snv 6.9E-02 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: rs17450273
rs17450273 		4 12 102967601 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2194980
rs2194980
LOC102723639
2 12 115064913 intergenic variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs2238732
rs2238732
PRODH
7 22 18927834 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs62421904
rs62421904
SLC16A10
1 6 111087194 upstream gene variant C/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs72930302
rs72930302
MYEOV
1 11 69309303 intron variant A/G snv 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs74330485
rs74330485 		1 19 41156018 intergenic variant A/G snv 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs74478345
rs74478345
LINC01592
1 8 68926541 intron variant C/T snv 2.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs79776098
rs79776098 		1 6 91459263 intergenic variant A/G snv 1.1E-03 0.700 1.000 1 2019 2019