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: rs1562846694
rs1562846694
TFR2 ; ACTL6B
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs431905504
rs431905504
SLC6A3
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.020 1.000 2 2011 2013
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs199935023
rs199935023
PLA2G6
4 0.882 0.040 22 38132917 missense variant C/A;T snv 4.9E-05; 3.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs63750929
rs63750929
PSEN1
4 0.882 0.080 14 73217177 missense variant G/T snv 0.010 1.000 1 2017 2017