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: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs4678
rs4678
VARS2
2 0.925 0.200 6 30926164 missense variant G/A snv 0.14 0.15 0.700 1.000 1 2012 2012
dbSNP: rs564353179
rs564353179
TTN ; LOC101927055
1 1.000 0.120 2 178780121 missense variant C/G snv 9.6E-05 9.1E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs3129939
rs3129939
TSBP1 ; TSBP1-AS1
5 0.827 0.360 6 32368989 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs7775397
rs7775397
TSBP1 ; TSBP1-AS1
7 0.790 0.400 6 32293475 missense variant T/G snv 6.0E-02 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs2517598
rs2517598
TRIM31 ; TRIM31-AS1
4 0.851 0.280 6 30112497 synonymous variant G/A snv 0.14 0.13 0.700 1.000 1 2012 2012
dbSNP: rs2523987
rs2523987
TRIM31 ; TRIM31-AS1
5 0.827 0.280 6 30112216 intron variant A/C snv 9.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs2523989
rs2523989
TRIM31 ; TRIM31-AS1
5 0.827 0.280 6 30110498 missense variant C/T snv 0.12 0.12 0.700 1.000 1 2012 2012
dbSNP: rs1422673
rs1422673
TNIP1
2 0.925 0.160 5 151059427 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2233287
rs2233287
TNIP1
2 0.925 0.160 5 151060536 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs3792783
rs3792783
TNIP1
3 0.882 0.280 5 151076171 intron variant A/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs3792785
rs3792785
TNIP1
1 1.000 0.120 5 151072089 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs4958881
rs4958881
TNIP1
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs2893321
rs2893321
TNFSF13B
3 0.882 0.200 13 108290686 intron variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs4263037
rs4263037
TNFRSF11A
1 1.000 0.120 18 62349000 intron variant G/A snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs4574025
rs4574025
TNFRSF11A
4 0.882 0.160 18 62342581 intron variant C/T snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs11466316
rs11466316
TGFB1
1 1.000 0.120 19 41353431 5 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs7750641
rs7750641
TCF19
6 0.807 0.360 6 31161533 missense variant C/T snv 7.0E-02 7.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs3753381
rs3753381
SLAMF1
1 1.000 0.120 1 160629620 intron variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs12653117
rs12653117
SEMA5A
1 1.000 0.120 5 9386473 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs9261290
rs9261290
RNF39
10 0.807 0.280 6 30070870 3 prime UTR variant T/C;G snv 5.2E-02; 7.2E-06 0.700 1.000 1 2012 2012
dbSNP: rs9963862
rs9963862
RBBP8
1 1.000 0.120 18 23007948 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2008 2015
dbSNP: rs3130564
rs3130564
PSORS1C1
7 0.790 0.360 6 31133897 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012