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: rs12230170
rs12230170 		1 1.000 0.040 12 128762838 intergenic variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs112961612
rs112961612 		1 1.000 0.040 20 41872026 intergenic variant T/A snv 8.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs78606339
rs78606339 		1 1.000 0.040 5 166001974 intergenic variant T/A snv 5.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs1558027212
rs1558027212
TMCO1
7 0.827 0.320 1 165728096 frameshift variant GC/- del 0.700 0
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs17637172
rs17637172
LOC105376250
1 1.000 0.040 9 119461680 intergenic variant G/T snv 8.8E-03 0.700 1.000 1 2015 2015
dbSNP: rs183819925
rs183819925 		1 1.000 0.040 4 175138126 intron variant G/T snv 9.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs6092354
rs6092354 		1 1.000 0.040 20 56719418 intergenic variant G/T snv 7.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs149969998
rs149969998 		1 1.000 0.040 17 13692262 intergenic variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs150919447
rs150919447
LOC102724087
1 1.000 0.040 6 160979870 intron variant G/C snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs6708110
rs6708110 		1 1.000 0.040 2 4007215 intergenic variant G/C snv 6.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs80358257
rs80358257
NPC1
8 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
dbSNP: rs190797076
rs190797076 		1 1.000 0.040 4 110589931 intergenic variant G/A;T snv 9.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs62106697
rs62106697
LINC01814
1 1.000 0.040 2 8520648 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs150734585
rs150734585
CDH4
1 1.000 0.040 20 61333207 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs121912651
rs121912651
TP53
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1039049
rs1039049
CFAP299
1 1.000 0.040 4 80416472 intron variant G/A snv 0.98 0.700 1.000 1 2015 2015
dbSNP: rs117224174
rs117224174 		1 1.000 0.040 6 114654261 intergenic variant G/A snv 2.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs12468965
rs12468965 		1 1.000 0.040 2 53528621 downstream gene variant G/A snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs141480664
rs141480664 		1 1.000 0.040 7 4469958 regulatory region variant G/A snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs145959269
rs145959269
TSNARE1
1 1.000 0.040 8 142275662 intron variant G/A snv 9.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs146594485
rs146594485 		1 1.000 0.040 20 3776090 downstream gene variant G/A snv 6.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs185894886
rs185894886
FSTL4
1 1.000 0.040 5 133794260 intergenic variant G/A snv 1.3E-02 0.700 1.000 1 2015 2015