rs34757931, VPS11

N. diseases: 26
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Leukoencephalopathy
CUI: C0270612
Disease: Leukoencephalopathy
17 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.710 1.000 1 2016 2016
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Borderline intellectual disability
CUI: C0006009
Disease: Borderline intellectual disability
3 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Elevated maternal serum alpha-fetoprotein
CUI: C0740927
Disease: Elevated maternal serum alpha-fetoprotein
1 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
LEUKODYSTROPHY, HYPOMYELINATING, 12
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
1 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Lower limb hypertonia
CUI: C1845245
Disease: Lower limb hypertonia
5 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Neurogenic Urinary Bladder
CUI: C0005697
Disease: Neurogenic Urinary Bladder
9 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Progressive spastic quadriplegia
CUI: C1859736
Disease: Progressive spastic quadriplegia
2 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Severe muscular hypotonia
CUI: C1839630
Disease: Severe muscular hypotonia
9 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0