rs1555574071, COL1A1

N. diseases: 1
Source: INFERRED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
1.000 0.120 17 50195284 frameshift variant C/- delins 0.700 0