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: rs2108978
rs2108978
1 17 19958145 missense variant C/G;T snv 0.37; 1.2E-05 0.43 0.700 1.000 1 2018 2018
dbSNP: rs386553773
rs386553773
1 17 19909228 missense variant T/C snv 0.700 1.000 1 2018 2018