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: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
dbSNP: rs1114167445
rs1114167445
SPTBN4
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs11190870
rs11190870 		4 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs1400182
rs1400182
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 128928 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1535462
rs1535462 		1 1.000 0.040 10 101214115 TF binding site variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1553403917
rs1553403917
ALMS1
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs1555682265
rs1555682265
DCC
5 0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1557055405
rs1557055405
ABCD1
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
9 0.925 0.200 6 43044835 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
13 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352
CUL7 ; KLC4
8 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs17326792
rs17326792
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 131073 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2393069
rs2393069
ZWINT
1 1.000 0.040 10 56359144 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs3950032
rs3950032 		1 1.000 0.040 10 101214352 TF binding site variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs431905504
rs431905504
SLC6A3
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
dbSNP: rs594791
rs594791
LBX1-AS1
1 1.000 0.040 10 101236039 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs797045164
rs797045164
KIF1A
8 0.851 0.120 2 240785063 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518789
rs1057518789
CREBBP
2 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518828
rs1057518828
GFAP
1 1.000 0.040 17 44911317 missense variant T/G snv 0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1060505041
rs1060505041
NACC1
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0