ATP6V1A, ATPase H+ transporting V1 subunit A, 523

N. diseases: 147; N. variants: 7
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: rs1060505036
rs1060505036 		1.000 3 113794895 missense variant C/T snv 4.0E-06
CUI: C4479409
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 		0.800 1.000 1 2017 2017
dbSNP: rs1060505037
rs1060505037 		1.000 3 113784227 missense variant G/A snv
CUI: C4479409
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 		0.800 1.000 1 2017 2017
dbSNP: rs1553709380
rs1553709380 		0.925 0.040 3 113778833 missense variant C/G snv
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.800 1.000 1 2018 2018
dbSNP: rs1553709855
rs1553709855 		0.925 0.040 3 113784310 missense variant G/T snv
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.800 1.000 1 2018 2018
dbSNP: rs1553710664
rs1553710664 		0.925 0.040 3 113794928 missense variant G/A snv
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.800 1.000 1 2018 2018
dbSNP: rs1553710694
rs1553710694 		1.000 3 113795090 missense variant A/G snv
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0013132
Disease: Drooling
Drooling 		Stomatognathic Diseases 0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		Neoplasms 0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C1849025
Disease: Oval face
Oval face 		0.700 0
dbSNP: rs1559759089
rs1559759089 		0.827 0.200 3 113795101 missense variant C/A snv
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.700 0
dbSNP: rs1553709380
rs1553709380 		0.925 0.040 3 113778833 missense variant C/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1553709380
rs1553709380 		0.925 0.040 3 113778833 missense variant C/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1553709855
rs1553709855 		0.925 0.040 3 113784310 missense variant G/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1553710664
rs1553710664 		0.925 0.040 3 113794928 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018