ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
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: rs387907345
rs387907345 		0.925 0.040 14 68921033 missense variant C/T snv
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.800 0
dbSNP: rs387907346
rs387907346 		1.000 14 68978963 missense variant G/T snv
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.800 0
dbSNP: rs387907347
rs387907347 		1.000 14 68879987 missense variant C/T snv 1.2E-05
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.800 0
dbSNP: rs387907348
rs387907348 		0.925 0.040 14 68925641 missense variant C/T snv
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.800 0
dbSNP: rs387907349
rs387907349 		0.925 0.040 14 68880030 missense variant G/A snv
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.800 0
dbSNP: rs387907350
rs387907350 		0.925 0.040 14 68904658 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.800 0
dbSNP: rs387907348
rs387907348 		0.925 0.040 14 68925641 missense variant C/T snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.710 1.000 2 2013 2019
dbSNP: rs117672662
rs117672662 		14 68958750 intron variant T/C snv 7.4E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs117672662
rs117672662 		14 68958750 intron variant T/C snv 7.4E-03
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs117672662
rs117672662 		14 68958750 intron variant T/C snv 7.4E-03
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2073307
rs2073307 		14 68875533 intron variant C/T snv 0.54
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs3784138
rs3784138 		14 68929672 intron variant T/C snv 0.18
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs387907345
rs387907345 		0.925 0.040 14 68921033 missense variant C/T snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs387907350
rs387907350 		0.925 0.040 14 68904658 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs76745467
rs76745467 		1.000 0.040 14 68959672 intron variant C/T snv 2.4E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs1555343284
rs1555343284 		1.000 14 68880041 missense variant T/C snv
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 0
dbSNP: rs387907349
rs387907349 		0.925 0.040 14 68880030 missense variant G/A snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0