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: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1562127631
rs1562127631
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs367814475
rs367814475
IVD
9 0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs587782995
rs587782995
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs867410737
rs867410737
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018