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: rs199473704
rs199473704 		0.882 0.080 17 3524224 missense variant C/A;T snv
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome 		0.840 1.000 4 2012 2018
dbSNP: rs199473705
rs199473705 		1.000 17 3518587 missense variant A/C snv
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome 		0.810 1.000 3 2012 2017
dbSNP: rs786205869
rs786205869 		1.000 17 3524202 missense variant T/G snv
CUI: C4225339
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 		0.800 0
dbSNP: rs786205868
rs786205868 		1.000 17 3518644 missense variant G/A snv
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome 		0.700 0
dbSNP: rs199473704
rs199473704 		0.882 0.080 17 3524224 missense variant C/A;T snv
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2017
dbSNP: rs151091899
rs151091899 		1.000 17 3541092 intron variant G/A snv 1.6E-04
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		0.010 1.000 1 2016 2016
dbSNP: rs199473704
rs199473704 		0.882 0.080 17 3524224 missense variant C/A;T snv
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs199473704
rs199473704 		0.882 0.080 17 3524224 missense variant C/A;T snv
CUI: C0011603
Disease: Dermatitis
Dermatitis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199473704
rs199473704 		0.882 0.080 17 3524224 missense variant C/A;T snv
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199473705
rs199473705 		1.000 17 3518587 missense variant A/C snv
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7217270
rs7217270 		1.000 0.040 17 3518181 intron variant A/C;G snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs7217270
rs7217270 		1.000 0.040 17 3518181 intron variant A/C;G snv
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2012 2012