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: rs886039234
rs886039234 		6 90571793 inframe deletion TCTTCC/- delins
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886039236
rs886039236 		6 90571778 inframe deletion AAC/- delins
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs10944489
rs10944489 		1.000 0.080 6 90554374 intron variant G/A snv 3.6E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs886039230
rs886039230 		1.000 6 90518552 missense variant G/A;C;T snv 4.1E-06; 4.1E-06
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.810 1.000 2 2016 2018
dbSNP: rs886039231
rs886039231 		1.000 6 90571720 missense variant C/G snv
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 1.000 1 2016 2016
dbSNP: rs886039232
rs886039232 		1.000 6 90561666 missense variant A/T snv
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 1.000 1 2016 2016
dbSNP: rs886039233
rs886039233 		1.000 6 90556605 missense variant C/G snv
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 1.000 1 2016 2016
dbSNP: rs886039235
rs886039235 		6 90561637 missense variant C/A snv
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.800 1.000 1 2016 2016
dbSNP: rs886039237
rs886039237 		6 90553473 missense variant A/C;T snv
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.800 1.000 1 2016 2016
dbSNP: rs1424161711
rs1424161711 		1.000 0.080 6 90552092 frameshift variant G/- delins 7.0E-06
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal 		Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2017 2017