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: rs1152591
rs1152591
1 1.000 0.080 14 64214130 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs2738413
rs2738413
1 1.000 0.080 14 64213242 intron variant A/G snv 0.63 0.700 1.000 2 2018 2018