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: rs11064560
rs11064560
1 12 834787 intron variant G/T snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs11554421
rs11554421
1 12 753986 missense variant G/A snv 0.12 9.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs11885
rs11885
1 12 753919 missense variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs34880640
rs34880640
1 12 754011 missense variant C/T snv 3.3E-03 1.0E-03 0.010 1.000 1 2011 2011
dbSNP: rs7305099
rs7305099
1 12 866110 non coding transcript exon variant T/A;G snv 0.010 1.000 1 2019 2019