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: rs11431
rs11431
1 14 54788955 3 prime UTR variant C/A;G;T snv 1.2E-05; 0.53 0.700 1.000 1 2018 2018
dbSNP: rs11624106
rs11624106
1 14 54713435 intron variant A/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs7147275
rs7147275
1 14 54766806 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018