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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2013 2019
dbSNP: rs2070995
rs2070995
2 1.000 0.040 21 37714662 synonymous variant T/C snv 0.80 0.85 0.010 1.000 1 2019 2019
dbSNP: rs773030005
rs773030005
2 1.000 0.040 4 69107204 synonymous variant A/C;G snv 4.0E-06; 6.8E-05 0.010 1.000 1 2019 2019