Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064797083
rs1064797083 		1.000 11 128810638 missense variant C/T snv
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.800 0
dbSNP: rs1064797084
rs1064797084 		1.000 11 128810657 missense variant A/G snv
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.800 0
dbSNP: rs1064797086
rs1064797086 		0.882 0.080 11 128810639 missense variant G/A snv
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.800 0
dbSNP: rs1064797087
rs1064797087 		0.925 0.040 11 128810662 missense variant A/G snv
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.800 0
dbSNP: rs773148506
rs773148506 		1.000 11 128810599 missense variant C/A;T snv 4.0E-06
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.800 0
dbSNP: rs1064797086
rs1064797086 		0.882 0.080 11 128810639 missense variant G/A snv
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10893909
rs10893909 		11 128695139 intron variant C/T snv 0.18
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11221443
rs11221443 		11 128723386 intron variant A/G snv 0.19
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1623169
rs1623169 		1.000 0.040 11 128714425 intron variant C/A;T snv
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs561079
rs561079 		1.000 0.040 11 128762660 intron variant T/C snv 0.37
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs648193
rs648193 		11 128797907 intron variant C/T snv 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs654723
rs654723 		11 128716260 intron variant C/A;T snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs654723
rs654723 		11 128716260 intron variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs665440
rs665440 		1.000 0.040 11 128712662 intron variant T/C snv 6.5E-02
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs680952
rs680952 		11 128794013 intron variant G/T snv 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs695113
rs695113 		11 128692203 intron variant C/G;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2018 2018
dbSNP: rs1064797085
rs1064797085 		1.000 11 128810620 frameshift variant ATTA/- delins
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1064797085
rs1064797085 		1.000 11 128810620 frameshift variant ATTA/- delins
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 0
dbSNP: rs1064797086
rs1064797086 		0.882 0.080 11 128810639 missense variant G/A snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1064797087
rs1064797087 		0.925 0.040 11 128810662 missense variant A/G snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1213948992
rs1213948992 		1.000 0.040 11 128810761 missense variant A/G snv 4.0E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7930515
rs7930515 		1.000 0.080 11 128694899 intron variant A/C;T snv 0.71
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011