Source: ALL

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: rs6878284
rs6878284
SLCO6A1
0.925 0.040 5 102434022 intron variant C/T snv 0.64
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.810 0.667 3 2013 2016
dbSNP: rs10073892
rs10073892
SLCO6A1
5 102391066 non coding transcript exon variant T/C snv 0.24 0.21
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 1.000 1 2014 2014
dbSNP: rs1222174664
rs1222174664
SLCO6A1
0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2007 2010
dbSNP: rs1222174664
rs1222174664
SLCO6A1
0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2007 2010
dbSNP: rs1222174664
rs1222174664
SLCO6A1
0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2015 2015
dbSNP: rs1222174664
rs1222174664
SLCO6A1
0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2016 2016
dbSNP: rs1222174664
rs1222174664
SLCO6A1
0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2007 2007
dbSNP: rs1255801434
rs1255801434
SLCO6A1
1.000 0.080 5 102438650 missense variant T/C snv 4.3E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2012 2012
dbSNP: rs1321703512
rs1321703512
SLCO6A1
1.000 0.120 5 102477684 missense variant A/G snv 1.2E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.010 1.000 1 2013 2013
dbSNP: rs1414521156
rs1414521156
SLCO6A1
5 102459731 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs1417373701
rs1417373701
SLCO6A1
0.925 0.120 5 102399606 missense variant G/A snv 4.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.010 1.000 1 2019 2019
dbSNP: rs1417373701
rs1417373701
SLCO6A1
0.925 0.120 5 102399606 missense variant G/A snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2019 2019
dbSNP: rs554903493
rs554903493
SLCO6A1
1.000 0.120 5 102419940 missense variant G/A snv 8.2E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs554903493
rs554903493
SLCO6A1
1.000 0.120 5 102419940 missense variant G/A snv 8.2E-06
CUI: C0039070
Disease: Syncope
Syncope 		0.010 1.000 1 2008 2008
dbSNP: rs6878284
rs6878284
SLCO6A1
0.925 0.040 5 102434022 intron variant C/T snv 0.64
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 < 0.001 1 2016 2016
dbSNP: rs755660650
rs755660650
SLCO6A1
0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 1.000 1 2007 2007
dbSNP: rs755660650
rs755660650
SLCO6A1
0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.010 1.000 1 2018 2018
dbSNP: rs755660650
rs755660650
SLCO6A1
0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs755660650
rs755660650
SLCO6A1
0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.010 1.000 1 2007 2007
dbSNP: rs755660650
rs755660650
SLCO6A1
0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06
CUI: C0027960
Disease: Nevus
Nevus 		0.010 1.000 1 2007 2007
dbSNP: rs773403329
rs773403329
SLCO6A1
0.925 0.120 5 102419925 missense variant A/G snv 4.1E-06 7.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.010 1.000 1 2019 2019
dbSNP: rs773403329
rs773403329
SLCO6A1
0.925 0.120 5 102419925 missense variant A/G snv 4.1E-06 7.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2019 2019
dbSNP: rs7734060
rs7734060
SLCO6A1
0.925 0.040 5 102444775 intron variant T/G snv 0.19
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 < 0.001 1 2016 2016
dbSNP: rs7734060
rs7734060
SLCO6A1
0.925 0.040 5 102444775 intron variant T/G snv 0.19
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 < 0.001 1 2016 2016
dbSNP: rs779587631
rs779587631
SLCO6A1
1.000 0.080 5 102438632 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.010 1.000 1 2008 2008