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: rs121909189
rs121909189
3 0.878 0.071 7 19116930 missense variant A/G snp 0.800 2 1997 2001
dbSNP: rs104894057
rs104894057
3 0.878 0.071 7 19116966 missense variant T/G snp 0.800 1 1997 1997
dbSNP: rs104894059
rs104894059
3 0.878 0.071 7 19116856 missense variant T/C snp 0.800 1 2002 2002
dbSNP: rs104894054
rs104894054
1 1.000 0.071 7 19117013 stop gained G/C,T snp 0.710 1.000 2 2001 2002
dbSNP: rs4647924
rs4647924
20 0.715 0.179 4 1801844 missense variant C/A,G,T snp 4.2E-06; 4.2E-06 3.2E-05; 3.2E-05 0.700 18 1996 2009
dbSNP: rs104894058
rs104894058
1 1.000 0.071 7 19116781 stop gained C/A,G,T snp 4.0E-06 0.700 1 1999 1999
dbSNP: rs121909186
rs121909186
1 1.000 0.071 7 19117013 stop gained G/GT in-del 0.700 1 1997 1997
dbSNP: rs121909187
rs121909187
1 1.000 0.071 7 19116954 stop gained G/T snp 0.700 1 2001 2001
dbSNP: rs121909188
rs121909188
1 1.000 0.071 7 19116946 stop gained C/A snp 0.700 1 2001 2001
dbSNP: rs879253718
rs879253718
1 1.000 0.071 10 121520109 inframe deletion GACCACT/G in-del 0.700 1 1998 1998