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: rs10766471
rs10766471 		11 18345583 intron variant C/T snv 0.45
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs11024625
rs11024625 		11 18350013 intron variant A/C;G snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4150558
rs4150558 		0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4150558
rs4150558 		0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4150558
rs4150558 		0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4150642
rs4150642 		1.000 11 18349351 intron variant G/C;T snv
CUI: C3888004
Disease: HERMANSKY-PUDLAK SYNDROME 5
HERMANSKY-PUDLAK SYNDROME 5 		0.010 1.000 1 2010 2010
dbSNP: rs4596
rs4596 		1.000 0.080 11 18366581 3 prime UTR variant G/C snv 0.41
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs4596
rs4596 		1.000 0.080 11 18366581 3 prime UTR variant G/C snv 0.41
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs76732092
rs76732092 		11 18358030 missense variant C/A snv
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015