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: rs140148806
rs140148806
STXBP2
2 1.000 0.040 19 7645196 splice acceptor variant G/C snv 2.0E-04 2.3E-04 0.700 1.000 5 2009 2012
dbSNP: rs35947132
rs35947132
PRF1
10 0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02 0.040 1.000 4 2005 2008
dbSNP: rs140184929
rs140184929
UNC13D
1 17 75831135 missense variant C/T snv 3.0E-04 1.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs28933375
rs28933375
PRF1
4 0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03 0.010 1.000 1 2005 2005
dbSNP: rs28933973
rs28933973
PRF1
2 1.000 0.040 10 70599048 missense variant G/A snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs748409747
rs748409747
GPT ; LOC101928953
2 1.000 0.200 8 144505418 missense variant G/A;T snv 9.1E-06; 1.8E-05 0.010 1.000 1 2013 2013