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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.909 11 2004 2018
dbSNP: rs12140311
rs12140311
CLCNKB
3 1.000 0.040 1 16052230 missense variant A/C;T snv 8.0E-06; 9.6E-02 0.030 0.667 3 2004 2011
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.020 0.500 2 2004 2014
dbSNP: rs1188884950
rs1188884950
SLC9A3 ; PP7080 ; SLC9A3-AS1
2 0.925 0.080 5 474952 missense variant A/G snv 4.2E-06 0.010 1.000 1 2004 2004
dbSNP: rs1359041359
rs1359041359
DBP ; SEC1P
1 1.000 0.040 19 48636949 missense variant C/G snv 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs1361625573
rs1361625573
SLC9A3 ; SLC9A3-AS1
2 0.925 0.080 5 474979 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1529927
rs1529927
SLC12A3
1 1.000 0.040 16 56870675 missense variant C/G snv 1.6E-05; 0.98 0.98 0.010 1.000 1 2004 2004
dbSNP: rs201637172
rs201637172
ADD1
1 1.000 0.040 4 2894717 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs763751076
rs763751076
AGXT
3 0.925 0.160 2 240875132 missense variant C/T snv 1.2E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs772187470
rs772187470
SLC12A3
1 1.000 0.040 16 56870221 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs777986489
rs777986489
AGTR1
1 1.000 0.040 3 148741657 missense variant T/C snv 3.2E-05 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs867667840
rs867667840
SLC8A1
1 1.000 0.040 2 40429554 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2005 2014
dbSNP: rs41511344
rs41511344
NR3C2
5 0.882 0.040 4 148152550 stop gained G/A;T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.010 1.000 1 2005 2005
dbSNP: rs696574
rs696574
CALCRL ; LOC105373786
1 1.000 0.040 2 187363789 intron variant T/C snv 0.80 0.010 1.000 1 2005 2005
dbSNP: rs1024323
rs1024323
GRK4
4 0.882 0.160 4 3004316 missense variant C/A;G;T snv 0.36 0.030 1.000 3 2006 2016
dbSNP: rs1801058
rs1801058
GRK4
4 0.882 0.120 4 3037423 missense variant T/C;G snv 0.62 0.030 1.000 3 2006 2016
dbSNP: rs2960306
rs2960306
GRK4
1 1.000 0.040 4 2988772 missense variant G/A;T snv 4.8E-05; 0.32 0.020 1.000 2 2006 2016
dbSNP: rs5194
rs5194
AGTR2
1 1.000 0.040 X 116173577 3 prime UTR variant A/G snv 0.020 0.500 2 2006 2014
dbSNP: rs13306425
rs13306425
HSD11B2
1 1.000 0.040 16 67435802 missense variant G/A snv 2.0E-04 1.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs1394205
rs1394205
FSHR
3 0.925 0.120 2 49154446 5 prime UTR variant C/T snv 0.32 0.28 0.010 1.000 1 2006 2006
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2006 2006
dbSNP: rs370615893
rs370615893
HSD11B2
1 1.000 0.040 16 67436789 missense variant G/A;C snv 1.2E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs5193
rs5193
AGTR2
2 1.000 0.040 X 116173571 3 prime UTR variant G/T snv 0.19 0.010 < 0.001 1 2006 2006