STX1B, syntaxin 1B, 112755

N. diseases: 58; N. variants: 17
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: rs12445568
rs12445568 		0.925 0.040 16 30993491 splice region variant T/C snv 0.39 0.38
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 1 2012 2012
dbSNP: rs724159974
rs724159974 		1.000 16 30993375 missense variant A/T snv
CUI: C4015395
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		0.800 1.000 1 2014 2014
dbSNP: rs727502806
rs727502806 		1.000 16 30993240 missense variant C/G snv
CUI: C4015395
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		0.800 0
dbSNP: rs1555494259
rs1555494259 		16 30996983 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 1993 2016
dbSNP: rs1555494259
rs1555494259 		16 30996983 missense variant C/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 3 1993 2016
dbSNP: rs12445568
rs12445568 		0.925 0.040 16 30993491 splice region variant T/C snv 0.39 0.38
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12716979
rs12716979 		16 31000500 intron variant T/G snv 0.35
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs13708
rs13708 		1.000 0.040 16 30989488 3 prime UTR variant G/A;C snv 0.52
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs13708
rs13708 		1.000 0.040 16 30989488 3 prime UTR variant G/A;C snv 0.52
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2199036
rs2199036 		16 30995651 intron variant C/T snv 0.37
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs2199036
rs2199036 		16 30995651 intron variant C/T snv 0.37
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs4889606
rs4889606 		16 30999862 intron variant A/G snv 0.35
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015
dbSNP: rs4889606
rs4889606 		16 30999862 intron variant A/G snv 0.35
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs55908605
rs55908605 		16 31004556 intron variant C/T snv 0.17
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs8060857
rs8060857 		16 30991399 3 prime UTR variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8062719
rs8062719 		16 30991343 3 prime UTR variant A/G snv 0.62
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs8062719
rs8062719 		16 30991343 3 prime UTR variant A/G snv 0.62
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1114167275
rs1114167275 		1.000 16 31001165 protein altering variant -/CAATGCACATCC ins
CUI: C4015395
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		0.700 0
dbSNP: rs1567379470
rs1567379470 		16 31001195 splice acceptor variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1567379671
rs1567379671 		1.000 16 31001597 frameshift variant -/TT delins
CUI: C4015395
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		0.700 0
dbSNP: rs200979563
rs200979563 		1.000 16 31001159 stop gained G/A;T snv 2.8E-05
CUI: C4015395
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		0.700 0
dbSNP: rs724159973
rs724159973 		1.000 16 31001133 stop gained G/A snv
CUI: C4015395
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		0.700 0
dbSNP: rs780843272
rs780843272 		16 30993183 stop gained G/A;C snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0