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: rs111340708
rs111340708
ATXN2 ; SH2B3
2 0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 0.010 1.000 1 2016 2016
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.040 1.000 4 2009 2015
dbSNP: rs148431413
rs148431413
TPO
1 1.000 0.040 2 1496134 missense variant T/G snv 6.0E-05 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs141311765
rs141311765
MPL
1 1.000 0.040 1 43340027 missense variant T/C snv 3.4E-04 1.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs3808850
rs3808850
JAK2
2 0.925 0.080 9 4983311 upstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs146249964
rs146249964
MPL
5 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 1.000 2 1994 2001
dbSNP: rs10815148
rs10815148
JAK2 ; INSL6
3 0.882 0.080 9 5057284 intron variant T/A snv 0.33 0.010 1.000 1 2008 2008
dbSNP: rs1343123940
rs1343123940
MPL
2 0.925 0.080 1 43339292 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.100 1.000 10 2007 2020
dbSNP: rs12342421
rs12342421
JAK2 ; INSL6
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.982 222 2005 2020
dbSNP: rs28928907
rs28928907
MPL
4 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.700 1.000 8 2000 2018
dbSNP: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.030 1.000 3 2010 2020
dbSNP: rs10974947
rs10974947
JAK2 ; INSL6
3 0.882 0.080 9 5072846 intron variant G/A snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs1268279596
rs1268279596
CASP9
1 1.000 0.040 1 15495419 missense variant G/A snv 8.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
dbSNP: rs746364606
rs746364606
THPO
1 1.000 0.040 3 184372642 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs918140013
rs918140013
ATXN2 ; SH2B3
2 0.925 0.080 12 111447663 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs587778514
rs587778514
MPL
2 0.925 0.080 1 43338564 frameshift variant CT/- del 5.2E-05 4.9E-05 0.700 1.000 2 2001 2007
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs552479055
rs552479055
CASP7
1 1.000 0.040 10 113726306 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs78894077
rs78894077
SH2B3
1 1.000 0.040 12 111418869 missense variant C/T snv 2.7E-03 1.2E-03 0.010 1.000 1 2016 2016