RIN2, Ras and Rab interactor 2, 54453

N. diseases: 86; N. variants: 10
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: rs6046396
rs6046396 		20 19871859 non coding transcript exon variant G/A snv 0.68
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.800 1.000 1 2010 2010
dbSNP: rs6046396
rs6046396 		20 19871859 non coding transcript exon variant G/A snv 0.68
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.800 1.000 1 2010 2010
dbSNP: rs16981087
rs16981087 		20 19759310 intron variant G/C snv 0.19
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		0.700 1.000 1 2018 2018
dbSNP: rs16981145
rs16981145 		20 19809906 intron variant G/C snv 0.14
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2011 2011
dbSNP: rs181853315
rs181853315 		20 19935125 synonymous variant C/T snv 6.7E-03 6.6E-03
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4813376
rs4813376 		20 19870811 intron variant T/G snv 0.86
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.700 1.000 1 2010 2010
dbSNP: rs4813376
rs4813376 		20 19870811 intron variant T/G snv 0.86
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.700 1.000 1 2010 2010
dbSNP: rs4814894
rs4814894 		1.000 0.080 20 19772894 intron variant G/A snv 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6081741
rs6081741 		20 19763697 intron variant G/A snv 0.65
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1568718508
rs1568718508 		1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 0
dbSNP: rs1568718508
rs1568718508 		1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1568718508
rs1568718508 		1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568718508
rs1568718508 		1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1568718508
rs1568718508 		1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1568718508
rs1568718508 		1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs587776915
rs587776915 		1.000 0.200 20 19990157 frameshift variant GC/- del
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs759390822
rs759390822 		1.000 0.200 20 19975750 frameshift variant C/-;CC delins
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0