SYNJ2BP, synaptojanin 2 binding protein, 55333

N. diseases: 18; N. variants: 2
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: rs10143078
rs10143078 		14 70414772 intron variant A/C snv 6.6E-02
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2014 2014
dbSNP: rs10143078
rs10143078 		14 70414772 intron variant A/C snv 6.6E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2014 2014
dbSNP: rs8022288
rs8022288 		14 70380407 intron variant C/T snv 0.87
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018