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: rs113214318
rs113214318
1 17 7633255 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1421320930
rs1421320930
1 17 7633271 synonymous variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs762304200
rs762304200
2 17 7630716 synonymous variant A/G snv 2.8E-05 0.010 1.000 1 2020 2020