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: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.700 1.000 4 2008 2010
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs1555760738
rs1555760738
CALR
2 0.925 0.040 19 12943751 splice donor variant CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG/- delins 0.700 0
dbSNP: rs202080221
rs202080221
SH2B3
2 0.925 0.040 12 111418767 stop gained G/C;T snv 1.1E-03 0.700 0