Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1590
rs1590
TGFBR1
0.882 0.120 9 99153883 3 prime UTR variant T/C;G snv
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome 		0.010 1.000 1 2020 2020
dbSNP: rs1590
rs1590
TGFBR1
0.882 0.120 9 99153883 3 prime UTR variant T/C;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs1590
rs1590
TGFBR1
0.882 0.120 9 99153883 3 prime UTR variant T/C;G snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs1590
rs1590
TGFBR1
0.882 0.120 9 99153883 3 prime UTR variant T/C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1590
rs1590
TGFBR1
0.882 0.120 9 99153883 3 prime UTR variant T/C;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019