SLC7A2, solute carrier family 7 member 2, 6542

N. diseases: 30; 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: rs2720499
rs2720499 		1.000 0.080 8 17534848 intron variant C/A;G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs56335308
rs56335308 		8 17561952 missense variant G/A snv 1.8E-02 1.6E-02
CUI: C0523801
Disease: Ornithine measurement
Ornithine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs56335308
rs56335308 		8 17561952 missense variant G/A snv 1.8E-02 1.6E-02
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019
dbSNP: rs75902664
rs75902664 		8 17569677 3 prime UTR variant A/G snv 1.7E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs7838611
rs7838611 		8 17565208 3 prime UTR variant A/G snv 0.12
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019