SUMF2, sulfatase modifying factor 2, 25870

N. diseases: 59; N. variants: 4
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: rs13244654
rs13244654 		7 56079263 intron variant T/C snv 0.48
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019
dbSNP: rs13244654
rs13244654 		7 56079263 intron variant T/C snv 0.48
CUI: C0428210
Disease: Methionine measurement
Methionine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs13244654
rs13244654 		7 56079263 intron variant T/C snv 0.48
CUI: C0523888
Disease: Serine measurement
Serine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs13244654
rs13244654 		7 56079263 intron variant T/C snv 0.48
CUI: C0523920
Disease: Threonine measurement
Threonine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1237770118
rs1237770118 		1.000 0.040 7 56078399 missense variant A/G snv 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
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