Gene: JAK2 ×
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 0.900 0.966 29 2005 2019
dbSNP: rs121912472
rs121912472
JAK2 ; INSL6
2 0.925 0.080 9 5073742 missense variant G/C snv 0.810 1.000 4 2006 2019
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs1392759936
rs1392759936
JAK2 ; INSL6
1 1.000 0.040 9 5054778 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs142269166
rs142269166
JAK2 ; INSL6
1 1.000 0.040 9 5126715 missense variant A/G snv 2.0E-03 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1479478620
rs1479478620
JAK2 ; INSL6
1 1.000 0.040 9 5126768 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs2230724
rs2230724
JAK2 ; INSL6
4 0.851 0.120 9 5081780 synonymous variant G/A snv 0.53 0.62 0.010 1.000 1 2012 2012
dbSNP: rs56118985
rs56118985
JAK2 ; INSL6
3 0.882 0.080 9 5044432 missense variant G/A;C snv 1.8E-03; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs777015472
rs777015472
JAK2 ; INSL6
1 1.000 0.040 9 5066740 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2010 2010