STXBP6, syntaxin binding protein 6, 29091

N. diseases: 8; N. variants: 5
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: rs2038700
rs2038700 		14 24992783 intron variant T/C snv 0.53
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs10147992
rs10147992 		14 25034593 intron variant A/G;T snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2011 2011
dbSNP: rs10147992
rs10147992 		14 25034593 intron variant A/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs10147992
rs10147992 		14 25034593 intron variant A/G;T snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs2004925
rs2004925 		14 24976156 intron variant G/A snv 0.52
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs2004925
rs2004925 		14 24976156 intron variant G/A snv 0.52
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2018 2018
dbSNP: rs2038700
rs2038700 		14 24992783 intron variant T/C snv 0.53
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs2038700
rs2038700 		14 24992783 intron variant T/C snv 0.53
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs2038700
rs2038700 		14 24992783 intron variant T/C snv 0.53
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs2038700
rs2038700 		14 24992783 intron variant T/C snv 0.53
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2038700
rs2038700 		14 24992783 intron variant T/C snv 0.53
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2038700
rs2038700 		14 24992783 intron variant T/C snv 0.53
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs7141943
rs7141943 		14 24969044 intron variant A/G;T snv
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs7141943
rs7141943 		14 24969044 intron variant A/G;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs7141943
rs7141943 		14 24969044 intron variant A/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs8017228
rs8017228 		14 24980020 intron variant A/C;G snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs8017228
rs8017228 		14 24980020 intron variant A/C;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018