ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15 ×
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: 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