Source: ALL
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: rs9811920
rs9811920
CMSS1
2 1.000 0.040 3 100125449 intron variant G/A snv 0.43 0.010 < 0.001 1 2016 2016
dbSNP: rs2233789
rs2233789
RDH8
2 0.925 0.040 19 10013026 upstream gene variant C/A;T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1644731
rs1644731
RDH8
2 0.925 0.040 19 10021323 missense variant T/A;C snv 4.0E-06; 0.52 0.010 < 0.001 1 2010 2010
dbSNP: rs4764971
rs4764971
ACTR6 ; DEPDC4
1 1.000 0.040 12 100238019 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs10860860
rs10860860
HELLPAR ; LINC02456
2 0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
7 0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 0.010 < 0.001 1 2011 2011
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.040 0.500 4 2011 2017
dbSNP: rs5742632
rs5742632
IGF1 ; LINC02456
4 0.851 0.120 12 102462696 intron variant A/G snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs12423791
rs12423791
IGF1
5 0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs35766
rs35766
LOC105369944
1 1.000 0.040 12 102486695 upstream gene variant C/T snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs1057524237
rs1057524237
COL11A1
7 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
dbSNP: rs12716080
rs12716080
CTNND2
3 0.882 0.040 5 11166836 intron variant G/T snv 0.39 0.010 < 0.001 1 2011 2011
dbSNP: rs10034228
rs10034228 		3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs6885224
rs6885224
CTNND2
3 0.882 0.040 5 11169833 intron variant C/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs38857
rs38857
MET
1 1.000 0.040 7 116725359 intron variant T/C snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs10215153
rs10215153
MET
1 1.000 0.040 7 116759077 intron variant G/A snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs6203
rs6203
HSD3B1
4 0.851 0.120 1 119514535 synonymous variant C/T snv 0.45 0.35 0.010 1.000 1 2011 2011
dbSNP: rs7839488
rs7839488
SNTB1
4 0.882 0.040 8 120550178 intron variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs6469937
rs6469937
SNTB1
3 0.882 0.040 8 120598198 intron variant G/A snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs368943069
rs368943069
ANXA5
1 1.000 0.040 4 121678449 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs577948
rs577948
MIR100HG
3 0.882 0.040 11 122159482 intron variant A/G snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs13382811
rs13382811
ZEB2
4 0.882 0.040 2 144466053 intron variant C/T snv 0.21 0.020 1.000 2 2017 2019
dbSNP: rs202057289
rs202057289
LRP2
2 0.925 0.160 2 169129060 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs11746675
rs11746675
GRM6
1 1.000 0.040 5 178986946 synonymous variant T/C snv 0.60 0.57 0.010 1.000 1 2016 2016