rs397514698, GNAQ

N. diseases: 52
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.
Sturge-Weber Syndrome
CUI: C0038505
Disease: Sturge-Weber Syndrome
2 0.667 0.400 9 77797577 missense variant C/T snv 0.880 1.000 8 2013 2019
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
13 0.667 0.400 9 77797577 missense variant C/T snv 0.730 1.000 3 2016 2019
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
10 0.667 0.400 9 77797577 missense variant C/T snv 0.720 1.000 2 2014 2017
Prader-Willi Syndrome
CUI: C0032897
Disease: Prader-Willi Syndrome
8 0.667 0.400 9 77797577 missense variant C/T snv 0.020 1.000 2 2014 2016
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
10 0.667 0.400 9 77797577 missense variant C/T snv 0.020 1.000 2 2014 2017
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2013 2013
Cutaneous vascular malformation
CUI: C1302793
Disease: Cutaneous vascular malformation
1 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017
Deformity
CUI: C0302142
Disease: Deformity
26 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2013 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017
Hemangioma of choroid
CUI: C0346390
Disease: Hemangioma of choroid
2 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2019 2019
Lesion of brain
CUI: C0221505
Disease: Lesion of brain
9 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017
Pyogenic granuloma
CUI: C0085653
Disease: Pyogenic granuloma
4 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2016 2016
Pyogenic granuloma of skin
CUI: C0263218
Disease: Pyogenic granuloma of skin
3 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2016 2016
Abnormal color vision
CUI: C0234629
Disease: Abnormal color vision
5 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Abnormal vena cava morphology
CUI: C4476886
Disease: Abnormal vena cava morphology
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Abnormal venous morphology
CUI: C0241665
Disease: Abnormal venous morphology
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Abnormality of neck blood vessel
CUI: C4073245
Disease: Abnormality of neck blood vessel
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Abnormality of the vasculature
CUI: C0241657
Disease: Abnormality of the vasculature
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Anisometropia
CUI: C0003081
Disease: Anisometropia
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Blepharitis
CUI: C0005741
Disease: Blepharitis
3 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Congenital abnormality of vein
CUI: C2937220
Disease: Congenital abnormality of vein
7 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0