Source: ALL

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: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C1367972
Disease: Phlebitis and thrombophlebitis
Phlebitis and thrombophlebitis 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0033774
Disease: Pruritus
Pruritus 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0546817
Disease: Fluid overload
Fluid overload 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0024528
Disease: Malaise and fatigue
Malaise and fatigue 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0494479
Disease: Other headache syndrome
Other headache syndrome 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 0