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: rs587777449
rs587777449
IFIH1
6 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs758379595
rs758379595
CLCN2
5 0.882 0.040 3 184359130 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs867593888
rs867593888
MYH9
11 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
dbSNP: rs1255327081
rs1255327081
ADD1
1 4 2926062 missense variant A/G snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs372777117
rs372777117
ADD1
1 4 2898494 missense variant A/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 1998 1998
dbSNP: rs142677199
rs142677199
ACE
4 0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs553350297
rs553350297
AGTR1
4 0.882 0.040 3 148741588 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs761401927
rs761401927
ACE
4 0.882 0.040 17 63488704 missense variant G/A snv 9.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs762079672
rs762079672
AGT
4 0.882 0.040 1 230710211 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs771676129
rs771676129
CD36
7 0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs999947969
rs999947969
CD36
7 0.827 0.080 7 80671145 synonymous variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs1801483
rs1801483
GCGR
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.030 0.667 3 1997 2001
dbSNP: rs1037733674
rs1037733674
GCG ; LOC101929532
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs571448378
rs571448378
FDXR
5 0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs777208537
rs777208537
REN
2 1.000 0.040 1 204156313 synonymous variant A/G snv 4.0E-06 0.030 1.000 3 1999 2003
dbSNP: rs148446907
rs148446907
AGT
3 0.925 0.080 1 230710026 synonymous variant G/A;C snv 1.2E-05 0.020 1.000 2 2000 2003
dbSNP: rs3814995
rs3814995
NPHS1 ; KIRREL2
1 19 35851310 missense variant C/G;T snv 4.0E-06; 0.32 0.010 1.000 1 2003 2003
dbSNP: rs4757268
rs4757268
PDE3B
6 0.827 0.120 11 14789216 synonymous variant A/G snv 0.63 0.64 0.010 1.000 1 2003 2003
dbSNP: rs5310
rs5310
CYP11B2 ; GML
1 8 142914393 synonymous variant G/A snv 1.7E-03 5.9E-03 0.010 1.000 1 2003 2003
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1799979
rs1799979
SCNN1B
2 1.000 0.040 16 23380659 missense variant C/G;T snv 8.1E-06; 2.1E-03 0.020 1.000 2 2004 2004
dbSNP: rs568401628
rs568401628
ACE
4 0.882 0.120 17 63497280 missense variant C/T snv 4.5E-05 7.0E-06 0.020 1.000 2 1999 2004
dbSNP: rs104894145
rs104894145
CYP17A1 ; WBP1L ; CYP17A1-AS1
3 0.925 0.240 10 102830946 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs113214318
rs113214318
SHBG
1 17 7633255 missense variant A/G snv 0.010 1.000 1 2004 2004