PSD, pleckstrin and Sec7 domain containing, 5662

N. diseases: 59; N. variants: 8
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: rs727502787
rs727502787 		1.000 10 102402267 missense variant A/G snv
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.800 1.000 1 2014 2014
dbSNP: rs727502788
rs727502788 		1.000 10 102402273 missense variant C/T snv
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.800 1.000 1 2014 2014
dbSNP: rs397514332
rs397514332 		1.000 10 102402138 stop gained C/G;T snv 5.3E-06
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.700 1.000 3 2014 2015
dbSNP: rs1565214594
rs1565214594 		1.000 10 102402152 frameshift variant CACAG/- delins
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.700 1.000 2 2006 2013
dbSNP: rs727502786
rs727502786 		1.000 10 102402137 frameshift variant CCGAGACA/- del 1.1E-05
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.700 1.000 1 2014 2014
dbSNP: rs397514331
rs397514331 		0.925 10 102402144 frameshift variant A/- delins
CUI: C3149378
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1
IMMUNODEFICIENCY, COMMON VARIABLE, 1 		0.700 0
dbSNP: rs397514331
rs397514331 		0.925 10 102402144 frameshift variant A/- delins
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.700 0
dbSNP: rs1422727916
rs1422727916 		10 102402129 missense variant C/T snv
CUI: C0276429
Disease: Enteroviral encephalomyelitis
Enteroviral encephalomyelitis 		Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs772903705
rs772903705 		10 102411788 missense variant C/T snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2006 2006