rs1559759089, ATP6V1A

N. diseases: 14
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
5 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
21 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Oval face
CUI: C1849025
Disease: Oval face
4 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
10 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
Widely spaced teeth
CUI: C1844813
Disease: Widely spaced teeth
10 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0