ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
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: rs121912679
rs121912679
1.000 0.040 2 157761077 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs121912679
rs121912679
1.000 0.040 2 157761077 missense variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs121912679
rs121912679
1.000 0.040 2 157761077 missense variant C/T snv
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
Mental Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs12997
rs12997
1.000 0.080 2 157736845 3 prime UTR variant A/G snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2033962
rs2033962
1.000 0.040 2 157781929 intron variant A/C;T snv
CUI: C4552766
Disease: Miscarriage
Miscarriage
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs763667205
rs763667205
1.000 0.040 2 157770421 missense variant A/T snv 8.8E-05
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.010 1.000 1 2018 2018