VPS35, VPS35 retromer complex component, 55737

N. diseases: 66; N. variants: 6
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: rs146795505
rs146795505 		1.000 16 46689707 start lost T/A;C snv 2.8E-04
CUI: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.700 1.000 1 2012 2012
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C3280133
Disease: PARKINSON DISEASE 17
PARKINSON DISEASE 17 		0.700 0
dbSNP: rs777153067
rs777153067 		1.000 16 46689706 start lost A/G;T snv 9.0E-06; 4.5E-06
CUI: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.700 0
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 0.957 23 2012 2019
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.060 1.000 6 2012 2014
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 1.000 4 2011 2015
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.040 1.000 4 2011 2015
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C4274355
Disease: Autosomal dominant late onset Parkinson disease
Autosomal dominant late onset Parkinson disease 		Nervous System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.020 0.500 2 2013 2014
dbSNP: rs184277092
rs184277092 		1.000 0.040 16 46669007 missense variant G/A snv 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3743928
rs3743928 		1.000 0.040 16 46689167 5 prime UTR variant C/A;G;T snv 8.1E-05; 4.5E-06; 3.2E-05; 3.3E-03
CUI: C4274355
Disease: Autosomal dominant late onset Parkinson disease
Autosomal dominant late onset Parkinson disease 		Nervous System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs770029606
rs770029606 		1.000 16 46674629 missense variant G/A snv 7.7E-05 9.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2011 2011