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: rs112772376
rs112772376 		8 125198502 intron variant G/A snv 6.5E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs112772376
rs112772376 		8 125198502 intron variant G/A snv 6.5E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs11778726
rs11778726 		8 125325929 intron variant G/A snv 0.43
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs16900452
rs16900452 		8 125230858 intron variant G/A;C snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs201447509
rs201447509 		1.000 0.040 8 125236380 intron variant TC/- del
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs2891677
rs2891677 		8 125331966 intron variant C/T snv 0.44
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4466418
rs4466418 		1.000 0.040 8 125311545 intron variant G/A;T snv
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs757613817
rs757613817 		1.000 8 125182183 frameshift variant T/- delins 1.7E-04 2.0E-04
CUI: C4310647
Disease: SECKEL SYNDROME 10
SECKEL SYNDROME 10 		0.700 0
dbSNP: rs773917653
rs773917653 		1.000 8 125366837 frameshift variant -/AGGG delins
CUI: C4310647
Disease: SECKEL SYNDROME 10
SECKEL SYNDROME 10 		0.700 0
dbSNP: rs7008482
rs7008482 		0.882 0.120 8 125255388 intron variant T/G snv 0.48
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2007 2012
dbSNP: rs7008482
rs7008482 		0.882 0.120 8 125255388 intron variant T/G snv 0.48
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2007 2012
dbSNP: rs7008482
rs7008482 		0.882 0.120 8 125255388 intron variant T/G snv 0.48
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs7008482
rs7008482 		0.882 0.120 8 125255388 intron variant T/G snv 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs7008482
rs7008482 		0.882 0.120 8 125255388 intron variant T/G snv 0.48
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010