Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs757188030
rs757188030
SLFN14
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
SLFN14
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
SLFN14
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
SLFN14
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
dbSNP: rs10512472
rs10512472
SLFN14
17 35557785 missense variant T/C snv 0.21 0.19
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs145171343
rs145171343
SLFN14
17 35559745 upstream gene variant C/T snv 9.5E-03
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs145171343
rs145171343
SLFN14
17 35559745 upstream gene variant C/T snv 9.5E-03
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs36064799
rs36064799
SLFN14 ; LOC107985033
17 35553480 non coding transcript exon variant -/A delins 4.5E-02 7.5E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs7221322
rs7221322
SLFN14 ; LOC107985032
17 35546753 downstream gene variant A/G snv 0.48
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs8073060
rs8073060
SLFN14 ; LOC107985032
17 35548243 missense variant T/A snv 0.32 0.34
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs8073060
rs8073060
SLFN14 ; LOC107985032
17 35548243 missense variant T/A snv 0.32 0.34
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs8073060
rs8073060
SLFN14 ; LOC107985032
17 35548243 missense variant T/A snv 0.32 0.34
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs869320714
rs869320714
SLFN14
1.000 17 35557404 missense variant A/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs869320714
rs869320714
SLFN14
1.000 17 35557404 missense variant A/T snv
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.700 0
dbSNP: rs869320715
rs869320715
SLFN14
1.000 17 35557406 missense variant T/A snv
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.700 0
dbSNP: rs869320715
rs869320715
SLFN14
1.000 17 35557406 missense variant T/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0