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: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs104894884
rs104894884
NDUFA1 ; RNF113A
4 0.882 0.040 X 119871933 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885
NDUFA1 ; RNF113A
5 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs150691273
rs150691273
HCN4
1 1.000 0.040 15 73325387 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs368001837
rs368001837
KCTD7
6 0.851 0.080 7 66638895 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs750033880
rs750033880
KCTD7
3 0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs755903502
rs755903502
SCARB2
3 0.882 0.120 4 76161738 stop gained T/A;C snv 4.0E-05; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs769236847
rs769236847
ASNS ; CZ1P-ASNS
8 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs776095655
rs776095655
SLC2A1
8 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011