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: rs121917905
rs121917905
1 1.000 0.143 10 49471085 missense variant A/C,G snp 0.800 2 2008 2010
dbSNP: rs121913024
rs121913024
4 0.846 0.357 19 45352802 missense variant G/A snp 5.6E-05 6.4E-05 0.710 1.000 1 2001 2001
dbSNP: rs185142838
rs185142838
2 1.000 0.143 10 49461473 stop gained G/A snp 1.4E-04 2.5E-04 0.700 2 1982 2011
dbSNP: rs121913023
rs121913023
4 0.846 0.357 19 45352511 missense variant C/T snp 2.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs121913028
rs121913028
4 0.846 0.357 19 45414870 missense variant G/A,C snp 1.2E-05; 1.6E-05 0.010 1.000 1 2015 2015