rs121912679, ACVR1

N. diseases: 4
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.
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
17 1.000 0.040 2 157761077 missense variant C/T snv 0.840 0.857 7 2006 2014
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
19 1.000 0.040 2 157761077 missense variant C/T snv 0.010 1 2014 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 1.000 0.040 2 157761077 missense variant C/T snv 0.010 1 2014 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 1.000 0.040 2 157761077 missense variant C/T snv 0.010 1 2014 2014