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: rs10131567
rs10131567 		1 1.000 0.040 14 35395672 intergenic variant G/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10244416
rs10244416 		1 1.000 0.040 7 20536128 intergenic variant C/A;T snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs10245867
rs10245867
JAZF1
2 0.925 0.080 7 28102567 intron variant G/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs1025549
rs1025549
PLCL1
1 1.000 0.040 2 198016459 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1032841
rs1032841
LINC01814
1 1.000 0.040 2 8526108 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10468514
rs10468514 		1 1.000 0.040 17 45378874 intergenic variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10519068
rs10519068
RORA
2 0.925 0.120 15 60776505 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10756796
rs10756796
BNC2
1 1.000 0.040 9 16730976 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs10791824
rs10791824
OVOL1 ; OVOL1-AS1
3 0.882 0.160 11 65791795 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10822037
rs10822037
ZNF365
1 1.000 0.040 10 62616798 intron variant T/C snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs10910095
rs10910095
LOC100996583
2 1.000 0.040 1 2579316 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10937319
rs10937319
RTP2 ; LOC100131635
1 1.000 0.040 3 187711669 intron variant T/A;C snv 0.700 1.000 1 2019 2019