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: rs13306026
rs13306026
PTGIS
1 1.000 0.040 20 49511026 splice donor variant A/G snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs13333226
rs13333226
UMOD
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.700 0
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 < 0.001 1 1998 1998
dbSNP: rs1801483
rs1801483
GCGR
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.030 1.000 3 1998 1999
dbSNP: rs1037733674
rs1037733674
GCG ; LOC101929532
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.020 1.000 2 1998 1999
dbSNP: rs568401628
rs568401628
ACE
4 0.882 0.120 17 63497280 missense variant C/T snv 4.5E-05 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs45483293
rs45483293
HSD11B2
2 1.000 0.040 16 67436012 synonymous variant G/A snv 3.1E-02 2.9E-02 0.010 1.000 1 2000 2000
dbSNP: rs688
rs688
LDLR
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 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 0.010 1.000 1 2001 2001
dbSNP: rs796145467
rs796145467
LDLR
3 0.925 0.080 19 11123310 synonymous variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2002 2002
dbSNP: rs5629
rs5629
PTGIS
3 0.925 0.080 20 49513169 stop gained G/A;T snv 4.0E-06; 0.25 0.010 < 0.001 1 2003 2003
dbSNP: rs12720742
rs12720742
ACE
1 1.000 0.040 17 63496923 missense variant C/G;T snv 2.4E-05; 3.2E-04 0.020 1.000 2 1998 2004
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: 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