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: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.710 1.000 1 2008 2008
dbSNP: rs62638745
rs62638745
EPOR
3 0.882 0.080 19 11378051 missense variant T/C snv 6.3E-03 6.2E-03 0.700 1.000 3 1993 2012
dbSNP: rs121917830
rs121917830
EPOR
1 1.000 0.040 19 11378195 stop gained C/A;T snv 0.700 1.000 2 1993 2007
dbSNP: rs121918116
rs121918116
EPOR
1 1.000 0.040 19 11378194 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs121917831
rs121917831
EPOR
1 1.000 0.040 19 11378233 stop gained G/A;C snv 4.0E-06 0.700 0
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: rs1555716041
rs1555716041
EPOR
1 1.000 0.040 19 11378206 frameshift variant AGCTGGG/- delins 0.700 0
dbSNP: rs1555716045
rs1555716045
EPOR
1 1.000 0.040 19 11378222 frameshift variant -/C delins 0.700 0
dbSNP: rs1555716047
rs1555716047
EPOR
1 1.000 0.040 19 11378229 frameshift variant -/A 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
dbSNP: rs80358193
rs80358193
EGLN1
3 0.882 0.080 1 231374041 missense variant G/C snv 0.020 1.000 2 2008 2008
dbSNP: rs150221602
rs150221602
JAK2 ; INSL6
2 1.000 0.040 9 5081828 missense variant G/C snv 4.2E-04 5.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615
JAK2 ; INSL6
7 0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs41316003
rs41316003
JAK2 ; INSL6
2 1.000 0.040 9 5126343 missense variant G/A;C snv 4.4E-03 0.010 1.000 1 2016 2016