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: rs104893665
rs104893665
SPR
2 1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 0.700 1.000 5 2001 2013
dbSNP: rs1057518942
rs1057518942
NPC1
2 1.000 0.160 18 23544424 missense variant G/A snv 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1114167290
rs1114167290
MYO5A
5 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
dbSNP: rs113371321
rs113371321
NPC1
1 18 23534477 missense variant G/A;C snv 1.2E-04 0.700 0
dbSNP: rs1135401746
rs1135401746
GNB1
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs113994063
rs113994063
EIF2B5
5 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
62 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs121917747
rs121917747
SPR
2 1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 0.700 1.000 1 2006 2006
dbSNP: rs121917762
rs121917762
TH
2 0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121917763
rs121917763
TH
2 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.710 1.000 7 1991 2014
dbSNP: rs1247665387
rs1247665387
FA2H
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
1 11 2171856 5 prime UTR variant C/T snv 7.0E-06 0.700 1.000 2 2007 2011
dbSNP: rs137852968
rs137852968
PANK2 ; MIR103A2
3 0.925 0.080 20 3916955 stop gained C/A;T snv 4.0E-06; 1.2E-05; 3.6E-05 0.700 0
dbSNP: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs146170087
rs146170087
C19orf12
6 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.710 1.000 0 2018 2018
dbSNP: rs150321966
rs150321966
ECHS1
3 0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 0.700 0
dbSNP: rs1553547838
rs1553547838
SATB2
4 0.925 0.280 2 199328709 stop gained G/A snv 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 0