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: rs1000940
rs1000940
1 17 5379957 intron variant A/G snv 0.31 0.700 1.000 3 2015 2019
dbSNP: rs3026101
rs3026101
1 17 5377145 synonymous variant T/C snv 0.36 0.31 0.700 1.000 3 2017 2019
dbSNP: rs10792
rs10792
1 17 5384859 3 prime UTR variant A/T snv 0.29 0.700 1.000 1 2019 2019