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: rs2556375
rs2556375
1 2 60532612 intron variant G/C;T snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs2556378
rs2556378
3 1.000 0.040 2 60535367 3 prime UTR variant T/G snv 0.81 0.700 1.000 1 2018 2018