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: rs1135402760
rs1135402760
BRSK2
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs4773054
rs4773054 		2 1.000 0.040 13 109501681 intron variant T/C snv 0.89 0.700 1.000 1 2015 2015
dbSNP: rs786205133
rs786205133
RLIM
4 0.882 0.120 X 74592248 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs10489525
rs10489525
CSDE1
1 1.000 0.040 1 114721064 intron variant G/A snv 0.32 0.800 1.000 1 2014 2014
dbSNP: rs10858047
rs10858047 		1 1.000 0.040 1 114531255 upstream gene variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs11102800
rs11102800
TRIM33
2 1.000 0.040 1 114498310 intron variant C/T snv 0.58 0.800 1.000 1 2014 2014
dbSNP: rs11102807
rs11102807 		1 1.000 0.040 1 114518963 intergenic variant A/G snv 0.44 0.800 1.000 1 2014 2014
dbSNP: rs11582563
rs11582563
TRIM33
1 1.000 0.040 1 114416918 intron variant G/A snv 0.14 0.800 1.000 1 2014 2014
dbSNP: rs11585926
rs11585926
TRIM33
3 1.000 0.040 1 114431068 intron variant T/C snv 0.22 0.800 1.000 1 2014 2014
dbSNP: rs11587400
rs11587400
PKMP1
1 1.000 0.040 1 114537037 non coding transcript exon variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs11589568
rs11589568
TRIM33
1 1.000 0.040 1 114453702 intron variant T/C snv 0.14 0.800 1.000 1 2014 2014
dbSNP: rs1877455
rs1877455 		1 1.000 0.040 1 114556471 intergenic variant C/T snv 0.12 0.810 1.000 1 2014 2014
dbSNP: rs3827735
rs3827735
TRIM33
1 1.000 0.040 1 114510087 intron variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs6537825
rs6537825
TRIM33
1 1.000 0.040 1 114405659 missense variant A/G snv 0.88 0.92 0.800 1.000 1 2014 2014
dbSNP: rs6661053
rs6661053
TRIM33
1 1.000 0.040 1 114496497 intron variant T/A;C snv 0.800 1.000 1 2014 2014
dbSNP: rs7511633
rs7511633
TRIM33
1 1.000 0.040 1 114456655 intron variant G/A snv 0.36 0.800 1.000 1 2014 2014
dbSNP: rs8453
rs8453
NRAS ; CSDE1
1 1.000 0.040 1 114716978 3 prime UTR variant G/T snv 0.11 0.800 1.000 1 2014 2014
dbSNP: rs926938
rs926938
AMPD1
1 1.000 0.040 1 114697195 upstream gene variant A/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs10239799
rs10239799 		1 1.000 0.040 7 120765281 intergenic variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs11899372
rs11899372 		1 1.000 0.040 2 127016304 upstream gene variant G/T snv 6.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs1429793
rs1429793
NELL1 ; LOC105376585
1 1.000 0.040 11 20904710 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs17134117
rs17134117
SDK1
1 1.000 0.040 7 3991432 intron variant C/T snv 9.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs2056412
rs2056412
FAM135B
1 1.000 0.040 8 138401090 intron variant T/C snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs2779251
rs2779251 		1 1.000 0.040 17 27804300 synonymous variant G/A snv 0.30 0.16 0.700 1.000 1 2013 2013