INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
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: rs121913135
rs121913135
0.882 0.120 19 7125437 missense variant C/A snv
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2963
rs2963
0.851 0.240 19 7163143 synonymous variant G/A snv 9.8E-02 0.13
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010