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: rs10127484
rs10127484
LOC101928059
1 1.000 1 153928504 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs10415622
rs10415622
SLC39A3
1 1.000 19 2739698 intron variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs197204
rs197204
MCUB
4 0.851 0.200 4 109576918 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs1972041
rs1972041
TPM1
1 1.000 15 63068648 intron variant T/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs2326398
rs2326398
CRISPLD2
5 0.827 0.200 16 84869111 intron variant A/G snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs3121310
rs3121310
WNT3A
1 1.000 1 228037123 intron variant A/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs3809857
rs3809857
WNT3 ; LRRC37A2
1 1.000 17 46770948 intron variant G/T snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs3832406
rs3832406
MTHFD1L
3 0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs4806874
rs4806874
SLC39A3
1 1.000 19 2738354 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6576618
rs6576618
GABRB3
1 1.000 15 26799458 intron variant A/C snv 0.59 0.010 1.000 1 2013 2013
dbSNP: rs6659735
rs6659735
PAX7
1 1.000 1 18657203 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6757845
rs6757845
ZNF385B
4 0.851 0.200 2 179449268 intron variant T/C snv 0.66 0.010 1.000 1 2011 2011
dbSNP: rs8029246
rs8029246
HMGN2P46
1 1.000 15 45528960 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs981778
rs981778
GABRB3
1 1.000 15 26712093 intron variant G/A snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs9890413
rs9890413
WNT3 ; LRRC37A2
1 1.000 17 46824083 intron variant G/A snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2013
dbSNP: rs1258763
rs1258763 		2 0.925 0.080 15 32758222 intergenic variant C/T snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs475202
rs475202 		1 1.000 13 68578880 intergenic variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs726455
rs726455
SOX1-OT
1 1.000 13 111997186 intergenic variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs951095
rs951095
LOC107984606 ; LOC107984607
1 1.000 13 104826293 intergenic variant C/T snv 0.38 0.010 1.000 1 2006 2006
dbSNP: rs611386
rs611386 		1 1.000 1 211596976 regulatory region variant T/C snv 0.86 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.800 5 1998 2016
dbSNP: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.050 1.000 5 2005 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2009