SLMAP, sarcolemma associated protein, 7871

N. diseases: 36; N. variants: 9
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: rs1043045
rs1043045
1.000 0.120 3 57928451 3 prime UTR variant T/C snv 0.31
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057719
rs1057719
1.000 0.120 3 57927987 3 prime UTR variant A/G snv 0.31
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17058639
rs17058639
0.925 0.160 3 57896874 splice region variant C/T snv 0.30 0.24
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015