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: rs121909637
rs121909637
3 0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918349
rs121918349
2 0.925 0.120 12 48966271 missense variant G/A;C;T snv 8.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1370886145
rs1370886145
1 1.000 0.040 10 101770403 missense variant C/T snv 1.3E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs141402957
rs141402957
1 1.000 0.040 17 7670658 missense variant T/C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs34201045
rs34201045
1 1.000 0.040 3 189789729 5 prime UTR variant -/AG;AGA;AGAG;AGG;AGGG ins 0.010 1.000 1 2008 2008
dbSNP: rs761885185
rs761885185
3 0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06 0.020 1.000 2 2004 2011