Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1319313254
rs1319313254
JAK2 ; INSL6
9 5050807 missense variant C/T snv 4.0E-06
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.010 1.000 1 2016 2016
dbSNP: rs375678155
rs375678155
JAK2 ; INSL6
1.000 9 5064922 missense variant G/A;C;T snv 1.7E-05; 1.7E-05; 4.2E-06
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.010 1.000 1 2015 2015
dbSNP: rs774709145
rs774709145
JAK2 ; INSL6
9 5080657 missense variant G/A;C snv 1.3E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs1159782
rs1159782
JAK2 ; INSL6
1.000 0.040 9 5078117 intron variant T/C snv 0.23
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2018 2018
dbSNP: rs1392759936
rs1392759936
JAK2 ; INSL6
1.000 0.040 9 5054778 missense variant G/A snv 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2010 2010
dbSNP: rs142269166
rs142269166
JAK2 ; INSL6
1.000 0.040 9 5126715 missense variant A/G snv 2.0E-03 2.1E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2019 2019
dbSNP: rs1479478620
rs1479478620
JAK2 ; INSL6
1.000 0.040 9 5126768 missense variant A/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2011 2011
dbSNP: rs150221602
rs150221602
JAK2 ; INSL6
1.000 0.040 9 5081828 missense variant G/C snv 4.2E-04 5.4E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.010 1.000 1 2016 2016
dbSNP: rs2274471
rs2274471
JAK2
1.000 0.040 9 4985879 intron variant A/G snv 0.21
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2017 2017
dbSNP: rs3780378
rs3780378
JAK2 ; INSL6
1.000 0.040 9 5112288 non coding transcript exon variant C/T snv 0.51
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2011 2011
dbSNP: rs41316003
rs41316003
JAK2 ; INSL6
1.000 0.040 9 5126343 missense variant G/A;C snv 4.4E-03
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.010 1.000 1 2016 2016
dbSNP: rs759031245
rs759031245
JAK2 ; INSL6
1.000 0.040 9 5022025 missense variant G/T snv 5.2E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs771912975
rs771912975
JAK2 ; INSL6
1.000 0.040 9 5055750 stop gained C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.010 1.000 1 2013 2013
dbSNP: rs777015472
rs777015472
JAK2 ; INSL6
1.000 0.040 9 5066740 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2010 2010
dbSNP: rs7857730
rs7857730
JAK2 ; INSL6
0.925 0.040 9 5084049 intron variant G/A;T snv 0.63
CUI: C0238694
Disease: Peripheral arthritis
Peripheral arthritis 		0.010 1.000 1 2019 2019
dbSNP: rs7857730
rs7857730
JAK2 ; INSL6
0.925 0.040 9 5084049 intron variant G/A;T snv 0.63
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2019 2019
dbSNP: rs923941004
rs923941004
JAK2 ; INSL6
1.000 0.040 9 5078334 missense variant T/C snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs12342421
rs12342421
JAK2 ; INSL6
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.020 1.000 2 2013 2014
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2011 2011
dbSNP: rs10815144
rs10815144
JAK2 ; INSL6
0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2014 2014
dbSNP: rs10815144
rs10815144
JAK2 ; INSL6
0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs10815144
rs10815144
JAK2 ; INSL6
0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2014 2014