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: rs35346340
rs35346340
FES
2 15 90884642 splice region variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6969780
rs6969780
HOXA3 ; HOXA-AS2
4 7 27119517 splice region variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs13125101
rs13125101 		6 4 80253438 TF binding site variant G/A snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs17608766
rs17608766
GOSR2 ; LRRC37A2
8 1.000 0.040 17 46935905 3 prime UTR variant T/C snv 9.2E-02 0.700 1.000 2 2011 2016
dbSNP: rs751984
rs751984
LRRC10B
4 11 61510774 3 prime UTR variant T/C snv 0.16 0.700 1.000 2 2015 2018
dbSNP: rs10897164
rs10897164
LRRC10B
3 11 61510303 3 prime UTR variant A/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs16895119
rs16895119
QKI
1 6 163576234 3 prime UTR variant C/T snv 4.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs4823006
rs4823006
ZNRF3
5 22 29055683 3 prime UTR variant A/G snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs6461992
rs6461992
HOXA10 ; HOXA11 ; HOXA10-HOXA9
5 1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs4980389
rs4980389
LSP1
5 11 1871355 5 prime UTR variant G/A snv 0.35 0.700 1.000 3 2018 2018
dbSNP: rs12129649
rs12129649
MOV10
4 1 112688881 5 prime UTR variant G/T snv 6.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs17554326
rs17554326
WARS1 ; WDR25
1 14 100376040 5 prime UTR variant A/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs2306363
rs2306363
SIPA1
7 11 65638129 5 prime UTR variant G/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs12790427
rs12790427
PCNX3
3 11 65617256 synonymous variant C/G;T snv 1.7E-05; 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 2 2016 2018
dbSNP: rs2067087
rs2067087
HOXA13 ; HOTTIP
6 1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2240736
rs2240736
TBX2
4 17 61408032 non coding transcript exon variant C/T snv 0.64 0.68 0.700 1.000 2 2015 2018
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
3 11 2631427 non coding transcript exon variant T/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs1265564
rs1265564
CUX2
4 1.000 0.120 12 111270654 non coding transcript exon variant A/C snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs149764880
rs149764880
CLCN6
3 1 11820674 non coding transcript exon variant G/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs17622152
rs17622152
YEATS2
3 3 183802324 non coding transcript exon variant G/A snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs1859168
rs1859168
HOTTIP
13 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3735533
rs3735533
HOTTIP
4 7 27206274 non coding transcript exon variant T/C snv 0.93 0.700 1.000 1 2018 2018