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: rs34976449
rs34976449
RERE
1 1 8438266 3 prime UTR variant -/G delins 0.66 0.700 1.000 1 2016 2016
dbSNP: rs59073566
rs59073566
LOC101928994
1 10 69215315 downstream gene variant -/T;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs71973827
rs71973827
LOC105369568
1 11 128612542 downstream gene variant A/- delins 0.14 0.700 1.000 1 2016 2016
dbSNP: rs17041439
rs17041439
SPIC
2 12 101479462 intron variant A/C snv 7.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs17370519
rs17370519
MBNL1
1 3 152390773 intron variant A/C snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs2134794
rs2134794
ERCC3
1 2 127273303 intron variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs2224234
rs2224234 		1 14 102915701 downstream gene variant A/C snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs34338164
rs34338164
PLEK
4 2 68388414 missense variant A/C snv 8.0E-03 7.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs4522104
rs4522104 		1 10 98127275 intergenic variant A/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs4826685
rs4826685 		1 X 3737519 intergenic variant A/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs6433895
rs6433895
LINC01934
1 2 181147287 intron variant A/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs6725295
rs6725295
KLHL23 ; PHOSPHO2-KLHL23
1 2 169743180 intron variant A/C snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs6911302
rs6911302
RIPOR2
1 6 24819824 intron variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs9379851
rs9379851 		2 6 26354552 regulatory region variant A/C snv 7.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs990171
rs990171 		2 1.000 0.080 2 102470310 upstream gene variant A/C snv 0.78 0.700 1.000 1 2016 2016
dbSNP: rs11024625
rs11024625
GTF2H1 ; LOC105376577
1 11 18350013 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs13092376
rs13092376
PAK2
3 3 196789417 intron variant A/C;G snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs16971368
rs16971368 		1 15 79811833 regulatory region variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs380691
rs380691
DHFR ; MSH3
1 5 80656215 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs4355658
rs4355658
CLDN4
1 7 73811362 intron variant A/C;G snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs6445528
rs6445528
SMIM4
1 3 52538431 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs7192652
rs7192652
NLRC5
2 16 57041268 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs139515
rs139515
RANGAP1
1 22 41260129 intron variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2649662
rs2649662 		1 11 57585089 regulatory region variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4414876
rs4414876
CGGBP1 ; ZNF654
1 3 88133918 intron variant A/C;T snv 0.700 1.000 1 2012 2012