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: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.100 0.793 29 1996 2017
dbSNP: rs138354054
rs138354054
1 1.000 0.040 3 114171881 missense variant C/A;T snv 8.7E-04 0.010 < 0.001 1 2000 2000
dbSNP: rs2134655
rs2134655
2 0.925 0.080 3 114139354 intron variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs324026
rs324026
1 1.000 0.040 3 114172195 intron variant C/T snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs963468
rs963468
2 0.925 0.080 3 114144040 intron variant G/A snv 0.30 0.010 1.000 1 2010 2010