Source: BEFREE

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: rs1226276218
rs1226276218
PARD6A ; ACD
1.000 0.120 16 67659943 stop gained G/A;C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.010 1.000 1 2019 2019
dbSNP: rs1367801477
rs1367801477
ACD ; CARMIL2
0.925 0.080 16 67657673 missense variant T/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1367801477
rs1367801477
ACD ; CARMIL2
0.925 0.080 16 67657673 missense variant T/C snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs149418249
rs149418249
ACD ; CARMIL2
0.925 0.080 16 67657798 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs149418249
rs149418249
ACD ; CARMIL2
0.925 0.080 16 67657798 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs6979
rs6979
ACD ; CARMIL2
1.000 0.040 16 67657765 missense variant A/G snv 0.50 0.61
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2010 2010
dbSNP: rs749499406
rs749499406
ACD
1.000 0.040 16 67658771 missense variant C/T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019