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: rs113520250
rs113520250
HLA-DRB1
1.000 0.040 6 32587108 intron variant C/T snv 0.26
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28986206
rs28986206
HLA-DRB1
1.000 0.040 6 32587634 intron variant -/AT ins
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9270157
rs9270157
HLA-DRB1
1.000 0.040 6 32587634 intron variant C/T snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28724212
rs28724212
HLA-DRB1
1.000 0.040 6 32588824 intron variant A/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs28724212
rs28724212
HLA-DRB1
1.000 0.040 6 32588824 intron variant A/G snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs77122291
rs77122291
HLA-DRB1
1.000 0.040 6 32591242 upstream gene variant G/A snv 0.23
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9270493
rs9270493
HLA-DRB1
6 32591333 upstream gene variant T/C snv 0.25
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs113399573
rs113399573
HLA-DRB1
6 32591382 upstream gene variant C/T snv 0.23
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9270504
rs9270504
HLA-DRB1
1.000 0.040 6 32591407 upstream gene variant C/A snv 0.48
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28366255
rs28366255
HLA-DRB1
6 32591705 upstream gene variant C/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9270520
rs9270520
HLA-DRB1
1.000 0.040 6 32591716 upstream gene variant A/T snv 0.42
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28366266
rs28366266
HLA-DRB1
6 32591976 upstream gene variant T/C snv 0.12
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.700 1.000 1 2018 2018
dbSNP: rs28366267
rs28366267
HLA-DRB1
1.000 0.040 6 32592004 upstream gene variant A/C snv 0.25
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28366270
rs28366270
HLA-DRB1
1.000 0.040 6 32592157 upstream gene variant A/G snv 0.26
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28366288
rs28366288
HLA-DRB1
1.000 0.040 6 32592655 upstream gene variant C/T snv 0.26
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9270556
rs9270556
HLA-DRB1
1.000 0.040 6 32592829 upstream gene variant G/A snv 0.48
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9270558
rs9270558
HLA-DRB1
1.000 0.040 6 32592890 upstream gene variant G/A snv 0.48
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9270559
rs9270559
HLA-DRB1
1.000 0.040 6 32592921 upstream gene variant T/G snv 0.50
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28366296
rs28366296
HLA-DRB1
1.000 0.040 6 32592950 upstream gene variant C/A snv 0.26
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9270567
rs9270567
HLA-DRB1
1.000 0.040 6 32593024 upstream gene variant T/G snv 0.48
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28366297
rs28366297
HLA-DRB1
1.000 0.040 6 32593052 upstream gene variant G/C snv 0.26
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28366298
rs28366298
HLA-DRB1
0.925 0.120 6 32593082 upstream gene variant A/C;T snv
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.700 1.000 1 2013 2013
dbSNP: rs28366298
rs28366298
HLA-DRB1
0.925 0.120 6 32593082 upstream gene variant A/C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 1.000 1 2012 2012
dbSNP: rs28366298
rs28366298
HLA-DRB1
0.925 0.120 6 32593082 upstream gene variant A/C;T snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28366301
rs28366301
HLA-DRB1
1.000 0.040 6 32593106 upstream gene variant G/A snv 0.26
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012