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: rs104894195
rs104894195
0.882 0.120 11 67490910 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0001206
Disease: Acromegaly
Acromegaly
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121908356
rs121908356
0.925 0.120 11 67490804 stop gained C/A snv
CUI: C0001206
Disease: Acromegaly
Acromegaly
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2276020
rs2276020
1.000 0.120 11 67490085 missense variant C/G;T snv 3.4E-02
CUI: C0001206
Disease: Acromegaly
Acromegaly
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs267606541
rs267606541
0.827 0.160 11 67487147 stop gained C/T snv
CUI: C0001206
Disease: Acromegaly
Acromegaly
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012