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: rs1831992
rs1831992
ZIC2
2 1.000 0.080 13 99983123 synonymous variant C/T snv 8.1E-02 7.8E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs1314974864
rs1314974864
VANGL2
1 1 160419339 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs573558988
rs573558988
VANGL2
1 1 160420419 missense variant G/A;T snv 8.0E-06 8.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs121918219
rs121918219
VANGL1
2 1.000 1 115682372 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs148512517
rs148512517
VANGL1
1 1 115691354 missense variant G/A;T snv 5.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs34059106
rs34059106
VANGL1
1 1 115684037 missense variant A/C;G snv 4.0E-03; 4.0E-06 1.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs4839469
rs4839469
VANGL1
1 1 115663802 missense variant G/A;C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs761123443
rs761123443
VANGL1
2 1.000 1 115663998 missense variant G/A snv 2.4E-05 6.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2012 2012
dbSNP: rs502396
rs502396
TYMS ; TYMSOS
2 1.000 0.080 18 659236 intron variant C/T snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs699517
rs699517
TYMS ; ENOSF1
1 18 673016 3 prime UTR variant C/T snv 0.38 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1212671656
rs1212671656
TUBGCP2
1 10 133297981 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs912942180
rs912942180
TUBGCP2
2 1.000 0.040 10 133297344 missense variant G/A snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs76665876
rs76665876
TRIM4
1 7 99892234 missense variant G/A snv 4.5E-03 1.3E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs1051226
rs1051226
TPM3
1 1 154157607 3 prime UTR variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs34396413
rs34396413
TFAP2A
3 0.925 0.160 6 10400802 intron variant AGA/- delins 6.8E-02 6.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2011 2011
dbSNP: rs3814573
rs3814573
TCF7L2
2 1.000 0.080 10 113138334 intron variant T/C snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs10786691
rs10786691
SUFU
3 0.925 0.160 10 102604895 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs748917911
rs748917911
SNAI2 ; LOC107986942
1 8 48920164 missense variant G/T snv 4.8E-05 4.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.060 0.833 6 2003 2018
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.050 0.800 5 2003 2013
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.020 1.000 2 2004 2013
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2013 2013