Source: CURATED ×
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: rs10436951
rs10436951
CEP170
1 1.000 0.080 1 243199378 intron variant A/G snv 7.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs144503462
rs144503462
LINC01347 ; SEPTIN14P21
1 1.000 0.080 1 243029970 intron variant T/C snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17391694
rs17391694 		6 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 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: rs34517439
rs34517439
DNAJB4 ; GIPC2
7 0.882 0.120 1 77984833 intron variant C/A snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs34585985
rs34585985 		2 0.925 0.080 1 210316066 intergenic variant A/G snv 5.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs71641308
rs71641308
ZZZ3
1 1.000 0.080 1 77621033 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs71641333
rs71641333
MGC27382
1 1.000 0.080 1 78277321 intron variant T/A snv 4.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs71658797
rs71658797
AK5
3 0.925 0.080 1 77501822 intron variant T/A snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs7534220
rs7534220
RTCA-AS1
1 1.000 0.080 1 100258911 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs77045810
rs77045810 		1 1.000 0.080 1 168535779 downstream gene variant A/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs78062588
rs78062588
ADAR
1 1.000 0.080 1 154593749 intron variant T/C snv 5.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs116165775
rs116165775
ETAA1
1 1.000 0.080 2 67400580 3 prime UTR variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11692700
rs11692700
LINC01829 ; LINC01828
1 1.000 0.080 2 67283245 intron variant T/C snv 2.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs151124926
rs151124926 		1 1.000 0.080 2 67740157 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs55864010
rs55864010 		1 1.000 0.080 2 67474157 intergenic variant G/A snv 6.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs55902839
rs55902839
TMEM237
1 1.000 0.080 2 201641266 intron variant A/C snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs722864
rs722864
MAP3K20
1 0.882 0.080 2 173118476 intron variant A/C;G;T snv 0.710 1.000 1 2017 2018
dbSNP: rs76980472
rs76980472
LINC02831 ; LOC105374786
1 1.000 0.080 2 67567320 intron variant T/C snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs79294676
rs79294676
LINC01829 ; LINC01828
2 0.925 0.080 2 67277529 intron variant G/A snv 6.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs79368540
rs79368540 		1 1.000 0.080 2 44962598 intron variant C/T snv 8.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs4488809
rs4488809
TP63
2 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.750 1.000 3 2011 2019