COL4A2, collagen type IV alpha 2 chain, 1284

N. diseases: 131; N. variants: 38
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: rs12877501
rs12877501
0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases
Nervous System Diseases; Endocrine System Diseases 0.700 0