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: rs201441120
rs201441120 		1.000 16 67657847 missense variant G/T snv 5.2E-05 2.1E-05
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.800 1.000 1 2014 2014
dbSNP: rs797045144
rs797045144 		1.000 16 67659786 inframe deletion TCT/- delins
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 1.000 2 2014 2014
dbSNP: rs201441120
rs201441120 		1.000 16 67657847 missense variant G/T snv 5.2E-05 2.1E-05
CUI: C4225283
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7 		0.700 0
dbSNP: rs797045144
rs797045144 		1.000 16 67659786 inframe deletion TCT/- delins
CUI: C4225283
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7 		0.700 0
dbSNP: rs1226276218
rs1226276218 		1.000 0.120 16 67659943 stop gained G/A;C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1367801477
rs1367801477 		0.925 0.080 16 67657673 missense variant T/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1367801477
rs1367801477 		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 		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 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs149418249
rs149418249 		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 		1.000 0.040 16 67657765 missense variant A/G snv 0.50 0.61
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs749499406
rs749499406 		1.000 0.040 16 67658771 missense variant C/T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2019 2019