Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2236479
rs2236479
SLC19A1 ; COL18A1
0.925 0.160 21 45499218 intron variant G/A snv 0.40
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		0.710 0.500 1 2011 2018
dbSNP: rs775144154
rs775144154
SLC19A1
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 		0.100 0.909 11 2004 2019
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 0.857 7 2008 2013
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.070 0.857 7 2008 2013
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.060 0.833 6 2003 2018
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 0.800 5 2003 2013
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.050 0.800 5 2005 2013
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.040 0.750 4 2006 2013
dbSNP: rs775144154
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.750 4 2007 2017
dbSNP: rs775144154
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2007 2017
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.030 1.000 3 2014 2018
dbSNP: rs1359880314
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 0.667 3 2006 2013
dbSNP: rs1359880314
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.030 0.667 3 2006 2013
dbSNP: rs1023159
rs1023159
SLC19A1
1.000 0.040 21 45546266 intron variant G/A snv 0.34
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 1.000 2 2016 2017
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.020 0.500 2 2015 2017
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2017 2019
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2014 2014
dbSNP: rs1359880314
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 1.000 2 2004 2013
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2007 2010
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2007 2010
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 1.000 2 2014 2015
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 1.000 2 2014 2015
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.020 1.000 2 2004 2007
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2012 2015
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 1.000 2 2014 2015