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: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs1800790
rs1800790
FGB
9 0.851 0.200 4 154562556 upstream gene variant G/A snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs2208454
rs2208454
MACROD2
3 0.882 0.080 20 14284769 intron variant G/C;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs6050
rs6050
FGA
10 0.827 0.120 4 154586438 missense variant T/A;C snv 0.29 0.010 1.000 1 2013 2013