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: rs73118372
rs73118372
CRELD1
4 0.851 0.160 3 9943989 missense variant T/C;G snv 2.6E-02; 6.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs3774207
rs3774207
CRELD1
4 0.851 0.160 3 9943972 synonymous variant C/T snv 0.27 0.38 0.010 1.000 1 2012 2012
dbSNP: rs9878047
rs9878047
CRELD1
4 0.851 0.160 3 9943773 intron variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs755981922
rs755981922
CRELD1
4 0.851 0.160 3 9943440 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs749628781
rs749628781
CRELD1
3 0.882 0.160 3 9934538 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.100 0.895 19 2000 2017
dbSNP: rs1496770
rs1496770
MAGI2
2 0.925 0.120 7 78629694 intron variant C/T snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs9640699
rs9640699
MAGI2
2 0.925 0.120 7 78366115 intron variant A/C snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs6962966
rs6962966
MAGI2
3 0.925 0.120 7 78174806 intron variant A/G snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs142569954
rs142569954
EDNRB
3 0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs5349
rs5349
EDNRB ; EDNRB-AS1
3 0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02 0.010 1.000 1 2003 2003
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2013 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs587781858
rs587781858
TP53
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2012 2014
dbSNP: rs12676
rs12676
CHDH
5 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs2071421
rs2071421
ARSA
7 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2003 2003
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.070 0.857 7 2008 2013
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.030 0.667 3 2006 2013