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: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1554236040
rs1554236040
ARID1B
5 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0
dbSNP: rs1555483699
rs1555483699
GRIN2A
10 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
dbSNP: rs1555548678
rs1555548678
STAT5B
7 0.925 0.160 17 42216054 missense variant G/A snv 0.700 0
dbSNP: rs1555549674
rs1555549674
STAT5B
6 0.882 0.240 17 42223402 missense variant T/G snv 0.700 0
dbSNP: rs200473652
rs200473652
UNC80
7 0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs387906760
rs387906760
STAT1
13 0.790 0.200 2 190995184 missense variant C/T snv 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs886039903
rs886039903
FGF12
6 0.807 0.200 3 192335434 missense variant C/T snv 0.700 0
dbSNP: rs886041094
rs886041094
UNC80
7 0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 0.700 0
dbSNP: rs555743307
rs555743307
IL4R
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.040 0.500 4 2002 2016
dbSNP: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.070 1.000 7 2004 2012
dbSNP: rs2228428
rs2228428
CCR4
2 0.925 0.120 3 32954436 synonymous variant C/T snv 0.25 0.23 0.010 < 0.001 1 2004 2004
dbSNP: rs2303063
rs2303063
SPINK5
4 0.882 0.160 5 148100464 missense variant G/A snv 0.52 0.44 0.020 1.000 2 2005 2012
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2005 2005
dbSNP: rs2569193
rs2569193
TMCO6
1 1.000 0.040 5 140635910 upstream gene variant G/A snv 0.27 0.010 1.000 1 2005 2005
dbSNP: rs436857
rs436857
IL12RB1
2 0.925 0.120 19 18086825 5 prime UTR variant G/A snv 0.16 0.17 0.010 1.000 1 2005 2005
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2005 2005
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.900 1.000 15 2006 2019
dbSNP: rs320995
rs320995
CYSLTR1
4 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 0.010 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 1.000 1 2006 2006
dbSNP: rs878906
rs878906
NAT9
2 0.925 0.120 17 74773195 non coding transcript exon variant T/C snv 0.51 0.010 1.000 1 2006 2006