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: rs142248415
rs142248415
MANBA
1 1.000 0.080 4 102634957 missense variant A/G;T snv 4.0E-06; 2.1E-03 7.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs781584789
rs781584789
MANBA
1 1.000 0.080 4 102639814 missense variant C/T snv 8.8E-05 1.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs1554110735
rs1554110735
TFAP2A
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs746681765
rs746681765
SLC25A46
3 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs137852212
rs137852212
FRMD7
2 0.925 0.120 X 132084546 missense variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs730882209
rs730882209
SETX
6 0.925 0.080 9 132326375 frameshift variant -/C delins 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: 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: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs864309532
rs864309532
PHF6
7 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
dbSNP: rs757788894
rs757788894
CLCN7
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
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 0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs121434621
rs121434621
OPN1LW
3 0.882 0.120 X 154154602 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894914
rs104894914
OPN1MW
4 0.851 0.120 X 154191716 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs770703007
rs770703007
MAPK8IP3
8 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs869312824
rs869312824
GNB1
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016