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: rs1057518644
rs1057518644
HGSNAT
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs12603582
rs12603582
ITGB3
2 1.000 0.040 17 47300211 intron variant G/T snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs15908
rs15908
ITGB3
1 17 47290971 synonymous variant A/C;G;T snv 0.39; 4.8E-04 0.010 1.000 1 2014 2014