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
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
Congenital hemihypertrophy
CUI: C0332890
Disease: Congenital hemihypertrophy
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Decrease in appetite
CUI: C0232462
Disease: Decrease in appetite
7 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Easy fatigability
CUI: C1837098
Disease: Easy fatigability
5 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Edema of lower extremity
CUI: C0239340
Disease: Edema of lower extremity
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Edema of the upper extremity
CUI: C0522035
Disease: Edema of the upper extremity
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Erythema
CUI: C0041834
Disease: Erythema
8 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0