SLFN14, schlafen family member 14, 342618

N. diseases: 13; N. variants: 9
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20 ×
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: rs757188030
rs757188030 		1.000 17 35557396 missense variant G/A;C snv 6.5E-06; 6.5E-06
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 1.000 2 2015 2016
dbSNP: rs869320714
rs869320714 		1.000 17 35557404 missense variant A/T snv
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 1.000 2 2015 2016
dbSNP: rs869320715
rs869320715 		1.000 17 35557406 missense variant T/A snv
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 1.000 2 2015 2016
dbSNP: rs869320716
rs869320716 		1.000 17 35557411 missense variant T/C snv
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 1.000 2 2015 2016