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: rs12613336
rs12613336 		6 2 210704675 regulatory region variant T/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs13244654
rs13244654
SUMF2
4 7 56079263 intron variant T/C snv 0.48 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: rs2238732
rs2238732
PRODH
7 22 18927834 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs62149891
rs62149891
CCT4
3 2 61877999 intron variant A/G snv 1.0E-01 0.700 1.000 1 2019 2019