rs66527965, COL1A1

N. diseases: 31
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.
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Rhizomelia
CUI: C1866730
Disease: Rhizomelia
6 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Wide anterior fontanel
CUI: C1866134
Disease: Wide anterior fontanel
5 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Wide cranial sutures
CUI: C0410935
Disease: Wide cranial sutures
1 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0