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: rs11147235
rs11147235
ZNF891
1 12 133112121 3 prime UTR variant T/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs1047922
rs1047922
ZNF516
1 18 76358607 splice region variant T/C snv 0.12 0.700 1.000 2 2018 2018
dbSNP: rs41506447
rs41506447
ZNF516
1 18 76363284 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs60372268
rs60372268
WNT9B ; LRRC37A2
1 17 46870390 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs78169557
rs78169557
WBP4
1 13 41081764 intron variant T/C snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs181362
rs181362
UBE2L3
3 22 21577779 intron variant C/T snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs5754102
rs5754102
UBE2L3
2 22 21561983 intron variant C/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
6 0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24 0.700 1.000 1 2018 2018
dbSNP: rs621313
rs621313
TYR ; LOC107984363
2 1.000 0.040 11 89180495 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10507170
rs10507170
TTC41P
1 12 103851268 intron variant G/A snv 9.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs9666712
rs9666712
TSPAN18
1 11 44834112 intron variant G/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs7405453
rs7405453
TSPAN10
1 17 81648542 3 prime UTR variant A/G snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs147972440
rs147972440
TRMT61B
1 2 28859270 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs77828979
rs77828979
TRIM51FP
1 11 49834082 intron variant T/C snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs17737857
rs17737857
TRDN ; TRDN-AS1
1 6 123390695 intron variant T/C snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs55828716
rs55828716
TRAM2 ; EFHC1
1 6 52528549 intron variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs3739070
rs3739070
TRAF3IP1
1 2 238397627 missense variant A/C;T snv 6.4E-02; 1.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs74979875
rs74979875
TRAF3IP1
1 2 238393927 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3130342
rs3130342
TNXB
2 1.000 0.080 6 32112369 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3134954
rs3134954
TNXB
4 0.882 0.240 6 32104116 intron variant C/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs3791979
rs3791979
TNS1
3 1.000 0.040 2 217802649 3 prime UTR variant T/A;C;G snv 0.700 1.000 3 2018 2018
dbSNP: rs1035673
rs1035673
TNS1
1 2 217810810 intron variant T/C snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs2571445
rs2571445
TNS1
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs10994754
rs10994754
TMEM26
1 10 61407015 3 prime UTR variant G/A snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs3850195
rs3850195
TMEM212 ; TMEM212-AS1 ; LOC105374218
1 3 171901726 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018