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: rs1555205335
rs1555205335
1 12 109788404 missense variant A/C snv 0.700 1.000 24 1976 2017
dbSNP: rs267607144
rs267607144
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 24 1976 2017