rs66490707, COL1A1

N. diseases: 7
Disease: Lobstein Disease ×
Source: ALL
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
257 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 1.000 10 1994 2017