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: rs150828104
rs150828104 		1 1.000 0.040 12 116337891 regulatory region variant TTTTGTTTTG/-;TTTTG;TTTTGTTTTGTTTTG;TTTTGTTTTGTTTTGTTTTG delins 0.700 1.000 1 2015 2015
dbSNP: rs111600634
rs111600634
LOC105376244
1 1.000 0.040 9 117856347 intron variant T/G snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs115700680
rs115700680 		1 1.000 0.040 1 171381070 intergenic variant T/G snv 1.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs190548934
rs190548934
LOC105376250
1 1.000 0.040 9 119471312 intergenic variant T/G snv 8.8E-03 0.700 1.000 1 2015 2015
dbSNP: rs209345
rs209345 		1 1.000 0.040 5 162064381 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1041536
rs1041536 		1 1.000 0.040 20 9907627 intergenic variant T/C snv 0.46 0.700 1.000 1 2015 2015
dbSNP: rs113793030
rs113793030 		1 1.000 0.040 10 70287104 upstream gene variant T/C snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs115764752
rs115764752
LOC105371614
1 1.000 0.040 1 171778066 upstream gene variant T/C snv 7.9E-03 0.700 1.000 1 2015 2015
dbSNP: rs116237496
rs116237496 		1 1.000 0.040 8 101033687 upstream gene variant T/C snv 4.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs12624302
rs12624302
LOC107985840
1 1.000 0.040 2 3168181 regulatory region variant T/C snv 3.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs12752888
rs12752888
LINC02784
1 0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs13447287
rs13447287
CDC45
1 1.000 0.040 22 19518601 intron variant T/C snv 6.9E-03 0.700 1.000 1 2015 2015
dbSNP: rs139660738
rs139660738 		1 1.000 0.040 12 94791412 intergenic variant T/C snv 6.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs148992089
rs148992089
EBF1
1 1.000 0.040 5 158952834 intron variant T/C snv 6.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs150759334
rs150759334 		1 1.000 0.040 4 60800528 downstream gene variant T/C snv 9.4E-03 0.700 1.000 1 2015 2015
dbSNP: rs150934526
rs150934526 		1 1.000 0.040 5 121330628 intron variant T/C snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs17090219
rs17090219 		2 0.925 0.080 18 56523802 intergenic variant T/C snv 7.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs3936289
rs3936289
ST6GAL1
2 0.925 0.080 3 187037169 intron variant T/C snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs73126576
rs73126576 		1 1.000 0.040 20 39961687 regulatory region variant T/C snv 2.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs7512924
rs7512924
SMYD3
1 1.000 0.040 1 246021301 intron variant T/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs76065397
rs76065397 		1 1.000 0.040 15 35904724 intergenic variant T/C snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs76444744
rs76444744
TBC1D8
1 1.000 0.040 2 101088883 intron variant T/C snv 8.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs78649275
rs78649275
EIF4G3
1 1.000 0.040 1 21150540 intron variant T/C snv 5.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs104886033
rs104886033
DHCR7
10 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
34 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0