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: rs56149945
rs56149945
0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
Endocrine System Diseases 0.040 1.000 4 2012 2020
dbSNP: rs1333998849
rs1333998849
0.925 0.040 5 143295540 missense variant T/C snv 1.4E-05
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs41423247
rs41423247
0.695 0.440 5 143399010 intron variant G/C snv 0.31
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6189
rs6189
0.827 0.240 5 143400774 missense variant C/A;T snv 4.0E-06; 1.8E-02
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6190
rs6190
0.827 0.120 5 143400772 missense variant C/G;T snv 4.0E-06; 1.8E-02
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6198
rs6198
0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
Endocrine System Diseases 0.010 1.000 1 2016 2016