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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs1173756
rs1173756
NPR3
1 5 32789746 3 prime UTR variant T/C snv 0.56 0.60 0.700 1.000 1 2011 2011
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.700 1.000 1 2011 2011
dbSNP: rs7733088
rs7733088
HTR4 ; LOC107986462
5 1.000 0.040 5 148476770 intron variant G/A;C snv 0.44; 4.1E-06 0.700 1.000 1 2019 2019
dbSNP: rs661348
rs661348
LSP1
5 11 1884062 intron variant T/C snv 0.43 0.37 0.700 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.700 1.000 1 2011 2011
dbSNP: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.700 1.000 1 2011 2011
dbSNP: rs3818762
rs3818762
MTHFR
1 1 11790946 intron variant G/C snv 0.26; 1.7E-03 0.23 0.700 1.000 1 2011 2011
dbSNP: rs3774372
rs3774372
ULK4
4 1.000 0.160 3 41835922 missense variant T/C snv 0.17 0.18 0.700 1.000 1 2011 2011
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 2 2011 2011
dbSNP: rs3751664
rs3751664
CACNA1H
1 16 1204369 missense variant C/A;T snv 9.4E-06; 8.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs17511601
rs17511601
OR5W2
1 11 55913899 missense variant T/C;G snv 1.6E-05; 6.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs17527788
rs17527788
OR7E5P
1 11 55979537 non coding transcript exon variant C/G;T snv 6.9E-06; 5.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs17581532
rs17581532
OR4C15
1 11 55554347 missense variant T/A snv 4.5E-02 4.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.700 1.000 3 2011 2011
dbSNP: rs17249754
rs17249754
ATP2B1
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.700 1.000 3 2011 2013
dbSNP: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 2 2011 2013
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 2 2011 2011
dbSNP: rs1421811
rs1421811
NPR3
2 5 32714164 intron variant C/G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1530440
rs1530440
CABCOCO1
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 2 2011 2011
dbSNP: rs16948048
rs16948048
ZNF652 ; LOC102724596
8 0.925 0.040 17 49363104 intron variant A/G snv 0.37 0.700 1.000 2 2011 2011
dbSNP: rs16998073
rs16998073 		10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.700 1.000 2 2011 2011
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2011 2011