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: rs2242508
rs2242508 		7 56083796 intron variant A/G snv 0.49
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2242508
rs2242508 		7 56083796 intron variant A/G snv 0.49
CUI: C0523888
Disease: Serine measurement
Serine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7783339
rs7783339 		7 56084738 intron variant A/T snv 0.45
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs368370244
rs368370244 		1.000 0.080 7 56087718 missense variant C/T snv 3.6E-05 5.6E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs759319721
rs759319721 		1.000 0.120 7 56079533 missense variant G/C snv 8.0E-06 7.0E-06
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs773695444
rs773695444 		1.000 0.120 7 56079590 missense variant G/C snv 4.0E-06
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009