TMEM258, transmembrane protein 258, 746

N. diseases: 63; N. variants: 37
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: rs1382225004
rs1382225004 		1.000 11 61779333 missense variant G/A snv
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.800 0
dbSNP: rs1565295267
rs1565295267 		0.827 0.360 11 61774051 missense variant C/A snv
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1565295267
rs1565295267 		0.827 0.360 11 61774051 missense variant C/A snv
CUI: C4551904
Disease: Total Anomalous Pulmonary Venous Return 1
Total Anomalous Pulmonary Venous Return 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565295267
rs1565295267 		0.827 0.360 11 61774051 missense variant C/A snv
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1565295267
rs1565295267 		0.827 0.360 11 61774051 missense variant C/A snv
CUI: C1735886
Disease: Bland White Garland Syndrome
Bland White Garland Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1565295267
rs1565295267 		0.827 0.360 11 61774051 missense variant C/A snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1565295267
rs1565295267 		0.827 0.360 11 61774051 missense variant C/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1565295286
rs1565295286 		1.000 11 61774059 missense variant A/G snv
CUI: C4722446
Disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION 		0.700 0
dbSNP: rs1565295395
rs1565295395 		1.000 11 61774103 frameshift variant -/GA delins
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.700 0
dbSNP: rs1565295550
rs1565295550 		1.000 11 61774154 missense variant G/A snv
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.700 0
dbSNP: rs1565304230
rs1565304230 		1.000 11 61780991 stop gained C/T snv
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.700 0
dbSNP: rs1565307564
rs1565307564 		0.807 0.120 11 61783599 missense variant A/G snv
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1565307564
rs1565307564 		0.807 0.120 11 61783599 missense variant A/G snv
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1565307564
rs1565307564 		0.807 0.120 11 61783599 missense variant A/G snv
CUI: C0036400
Disease: Scimitar Syndrome
Scimitar Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565307564
rs1565307564 		0.807 0.120 11 61783599 missense variant A/G snv
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1565307564
rs1565307564 		0.807 0.120 11 61783599 missense variant A/G snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1565307564
rs1565307564 		0.807 0.120 11 61783599 missense variant A/G snv
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.700 0
dbSNP: rs1565307564
rs1565307564 		0.807 0.120 11 61783599 missense variant A/G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1565308384
rs1565308384 		0.827 0.200 11 61784321 frameshift variant -/A delins
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.700 0
dbSNP: rs1565308384
rs1565308384 		0.827 0.200 11 61784321 frameshift variant -/A delins
CUI: C0221182
Disease: Chordee
Chordee 		Male Urogenital Diseases 0.700 0
dbSNP: rs1565308384
rs1565308384 		0.827 0.200 11 61784321 frameshift variant -/A delins
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1565308384
rs1565308384 		0.827 0.200 11 61784321 frameshift variant -/A delins
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 0
dbSNP: rs1565308384
rs1565308384 		0.827 0.200 11 61784321 frameshift variant -/A delins
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs174537
rs174537 		0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 2 2008 2018
dbSNP: rs102275
rs102275 		0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2010 2012