Source: ALL
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: rs867394500
rs867394500
ACE
4 0.851 0.080 17 63477301 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs2285450
rs2285450
NPHS1 ; KIRREL2
1 1.000 0.080 19 35851365 synonymous variant G/A snv 2.2E-02 4.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs437168
rs437168
NPHS1
2 1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs2032487
rs2032487
MYH9
3 0.882 0.080 22 36299382 intron variant C/T snv 0.78 0.020 1.000 2 2009 2012
dbSNP: rs3752462
rs3752462
MYH9
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2012 2012
dbSNP: rs4821480
rs4821480
MYH9
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs4821481
rs4821481
MYH9
1 1.000 0.080 22 36299896 intron variant C/T snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs104886303
rs104886303
COL4A5
4 0.851 0.200 X 108695409 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs151340624
rs151340624
CLCN5
4 0.851 0.120 X 50090846 stop gained C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs151340626
rs151340626
CLCN5
5 0.827 0.200 X 50085987 missense variant C/T snv 0.010 1.000 1 1998 1998