AQP7, aquaporin 7, 364

N. diseases: 34; 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: rs144994089
rs144994089
9 33385158 missense variant C/T snv 7.0E-04 8.2E-04
CUI: C0001925
Disease: Albuminuria
Albuminuria
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs62542743
rs62542743
1.000 9 33385243 missense variant C/A snv 3.8E-02 3.4E-02
CUI: C3280715
Disease: GLYCEROL QUANTITATIVE TRAIT LOCUS
GLYCEROL QUANTITATIVE TRAIT LOCUS
0.700 0
dbSNP: rs2989924
rs2989924
1.000 0.080 9 33403472 intron variant T/C snv 0.46
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3758269
rs3758269
1.000 0.080 9 33403642 intron variant G/A snv 0.10
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs62542743
rs62542743
1.000 9 33385243 missense variant C/A snv 3.8E-02 3.4E-02
CUI: C1306341
Disease: Mental handicap
Mental handicap
0.010 1.000 1 2013 2013