Disease: BLEEDING DISORDER, PLATELET-TYPE, 21 ×
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: 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