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: rs797046134
rs797046134
ALDH1A3 ; LOC101927751
1 1.000 0.040 15 100914748 missense variant T/C snv 0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs34002892
rs34002892
GNPTAB
8 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
dbSNP: rs7910584
rs7910584
SORCS1
1 1.000 0.040 10 106607970 intron variant C/A snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs11211996
rs11211996
GUCY1A2
1 1.000 0.040 11 106987949 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1895729
rs1895729 		1 1.000 0.040 11 107113002 intergenic variant G/A snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs10749886
rs10749886 		1 1.000 0.040 11 107129809 intergenic variant G/A snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs3797817
rs3797817
FER
1 1.000 0.040 5 108948641 intron variant A/C;G snv 0.700 1.000 1 2013 2013
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: rs12877501
rs12877501
COL4A2
4 0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 0.700 0
dbSNP: rs6891903
rs6891903
CTNND2
1 1.000 0.040 5 11371193 intron variant A/G snv 6.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs3782000
rs3782000
ZBTB16
1 1.000 0.040 11 114202153 intron variant C/T snv 0.18 0.700 1.000 1 2012 2012
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: 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: 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: 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: rs6661053
rs6661053
TRIM33
1 1.000 0.040 1 114496497 intron variant T/A;C snv 0.800 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: rs3827735
rs3827735
TRIM33
1 1.000 0.040 1 114510087 intron variant C/A;T snv 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: 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: 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: rs1877455
rs1877455 		1 1.000 0.040 1 114556471 intergenic variant C/T snv 0.12 0.810 1.000 1 2014 2014