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: rs7614311
rs7614311
C3orf49
1 3 63827978 intron variant A/C snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs6501431
rs6501431 		1 17 70980274 intergenic variant C/T snv 0.81 0.700 1.000 2 2014 2019
dbSNP: rs1079572
rs1079572
WWOX
1 16 78153241 intron variant G/A snv 0.57 0.700 1.000 1 2014 2014
dbSNP: rs1430193
rs1430193
EFEMP1
1 2 55893718 intron variant A/T snv 0.48 0.700 1.000 1 2014 2014
dbSNP: rs2863171
rs2863171
PRDM11
1 11 45229181 3 prime UTR variant A/C snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs4237643
rs4237643
HSD17B12
1 11 43626818 intron variant T/G snv 0.68 0.700 1.000 1 2014 2014
dbSNP: rs62164511
rs62164511
MIR217HG ; LOC105374690
1 2 55968561 intron variant A/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs6923462
rs6923462
BMP6
1 6 7800879 intron variant T/C snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs10850377
rs10850377
LOC107984437
2 12 114763631 intron variant G/A;C snv 0.700 1.000 3 2015 2019
dbSNP: rs11383346
rs11383346
LOC105369710 ; LOC107984462
2 12 28130254 upstream gene variant -/T delins 0.58 0.700 1.000 1 2015 2015
dbSNP: rs117068593
rs117068593
RIN3
4 14 92651884 missense variant C/T snv 0.13 0.11 0.700 1.000 1 2015 2015
dbSNP: rs2274116
rs2274116
LHX3
2 9 136202959 synonymous variant C/G;T snv 7.9E-06; 0.25 0.700 1.000 1 2015 2015
dbSNP: rs4658231
rs4658231 		1 1 91575945 regulatory region variant A/G snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs6441207
rs6441207
LOC100996447
3 3 158564670 intron variant C/T snv 0.45 0.700 1.000 1 2015 2015
dbSNP: rs6681426
rs6681426
ENSA
2 1 150614495 intron variant G/A snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs7155279
rs7155279
TRIP11
4 14 92019537 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2637254
rs2637254
LRMDA
3 10 76552244 intron variant G/A snv 0.44 0.700 1.000 3 2017 2019
dbSNP: rs2441026
rs2441026
ARL15
2 5 54148668 intron variant C/T snv 0.44 0.700 1.000 2 2017 2019
dbSNP: rs2571445
rs2571445
TNS1
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 2 2017 2019
dbSNP: rs34712979
rs34712979
NPNT
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 2 2017 2019
dbSNP: rs35506
rs35506
LOC102723639
1 12 115062886 intergenic variant T/A snv 0.76 0.700 1.000 2 2017 2019
dbSNP: rs91731
rs91731 		1 5 33334206 intergenic variant C/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs10858246
rs10858246
QSOX2
1 9 136210985 intron variant G/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10870202
rs10870202
CARD9 ; DNLZ
1 9 136362959 intron variant T/C snv 0.48 0.48 0.700 1.000 1 2017 2017
dbSNP: rs1490265
rs1490265
SUCLG2
2 1.000 0.040 3 67401619 intron variant C/A snv 0.74 0.700 1.000 1 2017 2017