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: rs11057405
rs11057405
12 122297350 intron variant G/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 2 2015 2018
dbSNP: rs10846664
rs10846664
12 122339230 intron variant A/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2015 2015
dbSNP: rs11057405
rs11057405
12 122297350 intron variant G/A;C snv
CUI: C0562350
Disease: Hip circumference
Hip circumference
0.700 1.000 1 2015 2015
dbSNP: rs34220678
rs34220678
12 122417675 intron variant G/A snv 7.6E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs1183319975
rs1183319975
1.000 0.080 12 122288497 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs984649575
rs984649575
12 122377616 stop gained G/A snv 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1388646839
rs1388646839
1.000 0.080 12 122341610 missense variant T/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016