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: rs10761741
rs10761741
JMJD1C
4 1.000 0.040 10 63306426 intron variant G/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs114694170
rs114694170
MEF2C ; MEF2C-AS1
5 1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs11601507
rs11601507
TRIM5
3 1.000 0.040 11 5679844 missense variant C/A;T snv 9.3E-02; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1473247
rs1473247
RNF145
2 1.000 0.040 5 159176563 intron variant T/C snv 0.41 0.800 1.000 1 2009 2009
dbSNP: rs210134
rs210134
BAK1 ; GGNBP1
3 1.000 0.120 6 33572432 intron variant A/G snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs34651
rs34651
TNPO1
5 1.000 0.040 5 72848178 non coding transcript exon variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs603424
rs603424
PKD2L1
13 1.000 0.080 10 100315722 intron variant G/A snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs649729
rs649729
EHD3
3 1.000 0.040 2 31241519 intron variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs7394579
rs7394579
FADS1 ; FADS2
5 1.000 0.080 11 61813978 intron variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs385893
rs385893 		9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs6141
rs6141
THPO
4 0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56 0.700 1.000 1 2012 2012
dbSNP: rs6993770
rs6993770
ZFPM2 ; ZFPM2-AS1
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs9378249
rs9378249 		3 0.925 0.160 6 31359924 upstream gene variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs342293
rs342293
CTB-30L5.1
7 0.882 0.040 7 106731773 intron variant C/G snv 0.42 0.800 1.000 7 2009 2019
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.700 1.000 1 2016 2016
dbSNP: rs1613662
rs1613662
GP6 ; LOC107985325
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.700 1.000 1 2016 2016
dbSNP: rs6065
rs6065
CHRNE ; GP1BA
6 0.851 0.280 17 4933086 missense variant C/T snv 9.8E-02 0.13 0.700 1.000 1 2012 2012
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs7539542
rs7539542
ADIPOR1
9 0.807 0.200 1 202940846 3 prime UTR variant G/C snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
10 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs12041331
rs12041331
PEAR1
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.700 1.000 1 2016 2016