CD2AP, CD2 associated protein, 23607

N. diseases: 113; N. variants: 14
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: rs9349407
rs9349407 		1.000 0.080 6 47485642 intron variant G/C snv 0.23
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.830 1.000 4 2011 2015
dbSNP: rs10948363
rs10948363 		1.000 0.080 6 47520026 intron variant A/G snv 0.23
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.800 1.000 3 2013 2019
dbSNP: rs5876027
rs5876027 		6 47570142 intron variant TT/-;T;TTT;TTTT delins
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs5876027
rs5876027 		6 47570142 intron variant TT/-;T;TTT;TTTT delins
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs6940729
rs6940729 		6 47585184 intron variant T/A;C;G snv
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.700 1.000 1 2016 2016
dbSNP: rs9296559
rs9296559 		6 47484534 intron variant T/C snv 0.23
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9349407
rs9349407 		1.000 0.080 6 47485642 intron variant G/C snv 0.23
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9367279
rs9367279 		6 47480600 intron variant A/G snv 0.23
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9473132
rs9473132 		1.000 0.040 6 47554621 intron variant G/A;C snv 0.61
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1393955970
rs1393955970 		6 47580901 splice donor variant G/A;T snv 7.0E-06
CUI: C1842982
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1554181304
rs1554181304 		1.000 6 47576523 splice acceptor variant GC/CT mnv
CUI: C4016880
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 		0.700 0
dbSNP: rs267606710
rs267606710 		1.000 6 47612492 stop gained C/A;T snv 2.0E-05; 2.0E-05
CUI: C4016880
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 		0.700 0
dbSNP: rs116754410
rs116754410 		1.000 0.080 6 47624205 missense variant A/G snv 2.1E-03 8.3E-03
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs6936632
rs6936632 		0.925 0.080 6 47588297 intron variant G/A snv 7.6E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6936632
rs6936632 		0.925 0.080 6 47588297 intron variant G/A snv 7.6E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9349417
rs9349417 		0.925 0.080 6 47612921 intron variant A/G snv 0.27
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9349417
rs9349417 		0.925 0.080 6 47612921 intron variant A/G snv 0.27
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9369717
rs9369717 		0.925 0.080 6 47586732 intron variant T/G snv 0.22
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9369717
rs9369717 		0.925 0.080 6 47586732 intron variant T/G snv 0.22
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9473132
rs9473132 		1.000 0.040 6 47554621 intron variant G/A;C snv 0.61
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		Musculoskeletal Diseases 0.010 1.000 1 2014 2014