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: rs2300206
rs2300206
RALY
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs481519
rs481519
NEK10
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs56084662
rs56084662
FRY
18 0.701 0.280 13 32295727 3 prime UTR variant G/A snv 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464
KRT8
17 0.708 0.280 12 52918828 intron variant C/T snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs75316749
rs75316749
LOC107986051
18 0.701 0.280 3 169043635 intergenic variant A/G snv 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs7725218
rs7725218
TERT
17 0.708 0.280 5 1282299 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs7931342
rs7931342 		20 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs4808075
rs4808075
BABAM1 ; USHBP1
18 0.701 0.280 19 17279482 intron variant T/C snv 0.26 0.700 1.000 2 2016 2017
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs10962692
rs10962692 		3 0.925 0.120 9 16915876 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs13113999
rs13113999 		1 1.000 0.040 4 166265894 intergenic variant T/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs1400482
rs1400482
LINC00824
2 0.925 0.120 8 128529685 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs144962376
rs144962376
MLLT10
2 0.925 0.120 10 21589903 intron variant CCCCTT/-;CCCCTTCCCCTT delins 0.700 1.000 1 2017 2017
dbSNP: rs150293538
rs150293538
LINC01111
1 1.000 0.040 8 76408119 intron variant C/T snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs1879586
rs1879586
PLEKHM1
2 0.925 0.120 17 45489971 intron variant C/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs2165109
rs2165109
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111061081 intron variant A/C snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs58722170
rs58722170
RSPO1
2 0.925 0.120 1 37630749 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs6005807
rs6005807
TTC28 ; LOC101929594
2 0.925 0.120 22 28538325 intron variant T/C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs62274041
rs62274041 		3 0.925 0.120 3 156717851 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
3 0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017