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: rs11466112
rs11466112
3 1.000 0.080 1 115286135 missense variant G/A snv 1.6E-05 7.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs748653984
rs748653984
2 1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.030 1.000 3 2010 2018
dbSNP: rs778056858
rs778056858
2 1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06 0.030 1.000 3 2010 2018
dbSNP: rs1272434944
rs1272434944
1 1.000 0.080 1 115286435 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs769190598
rs769190598
1 1.000 0.080 1 115286188 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018