SLC19A1, solute carrier family 19 member 1, 6573

N. diseases: 155; N. variants: 47
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: rs2236479
rs2236479 		0.925 0.160 21 45499218 intron variant G/A snv 0.40
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		Pathological Conditions, Signs and Symptoms 0.710 0.500 2 2011 2018
dbSNP: rs12483377
rs12483377 		21 45511195 missense variant G/A snv 6.6E-02 6.6E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs142899279
rs142899279 		1.000 0.080 21 45530897 missense variant C/A snv 4.9E-04 8.4E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs144147445
rs144147445 		21 45510178 missense variant G/A snv 1.3E-02 1.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1555877107
rs1555877107 		1.000 0.160 21 45512337 frameshift variant -/TGCC ins
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2236479
rs2236479 		0.925 0.160 21 45499218 intron variant G/A snv 0.40
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2330183
rs2330183 		21 45533378 intron variant C/T snv 0.51
CUI: C0392707
Disease: Atopy
Atopy 		Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs73370840
rs73370840 		1.000 21 45497121 intron variant C/T snv 0.14 0.16
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.700 1.000 1 2019 2019
dbSNP: rs77974343
rs77974343 		21 45496290 3 prime UTR variant C/T snv 1.0E-03 5.3E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057518802
rs1057518802 		0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.700 0
dbSNP: rs1057518802
rs1057518802 		0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518802
rs1057518802 		0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.700 0
dbSNP: rs1057518802
rs1057518802 		0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs113847452
rs113847452 		1.000 0.160 21 45511228 splice donor variant T/C snv 1.6E-05 7.0E-06
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555870809
rs1555870809 		21 45494560 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1555874538
rs1555874538 		21 45504521 frameshift variant GGCCCCCC/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs398122391
rs398122391 		0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0
dbSNP: rs398122391
rs398122391 		0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs398122391
rs398122391 		0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs749009747
rs749009747 		1.000 0.160 21 45497645 frameshift variant C/-;CC delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs749009747
rs749009747 		1.000 0.160 21 45497645 frameshift variant C/-;CC delins
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs756797124
rs756797124 		1.000 0.160 21 45505236 frameshift variant CAGGGCCCCC/-;CAGGGCCCCCCAGGGCCCCC delins
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs769882681
rs769882681 		1.000 0.160 21 45504505 frameshift variant C/-;CC delins 3.6E-05 1.3E-03
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs775144154
rs775144154 		0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.100 0.909 11 2004 2019
dbSNP: rs1051266
rs1051266 		0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.070 0.857 7 2008 2013