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: rs1161373315
rs1161373315 		1.000 20 63662876 stop gained C/A;T snv 7.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1177091623
rs1177091623 		1.000 20 63689563 missense variant C/T snv 4.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs1263776141
rs1263776141 		1.000 20 63689639 frameshift variant -/G delins 7.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1415449695
rs1415449695 		1.000 20 63694761 stop gained C/G;T snv 7.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1421904176
rs1421904176 		1.000 20 63693004 splice donor variant G/T snv 4.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1449687529
rs1449687529 		0.882 0.120 20 63692960 frameshift variant C/- delins 7.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1449687529
rs1449687529 		0.882 0.120 20 63692960 frameshift variant C/- delins 7.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs146221660
rs146221660 		0.925 0.040 20 63693248 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs1555811386
rs1555811386 		1.000 20 63688138 splice acceptor variant G/A snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555811742
rs1555811742 		1.000 20 63689581 frameshift variant -/C delins
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555811762
rs1555811762 		1.000 20 63689628 stop gained C/T snv
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs1555811966
rs1555811966 		1.000 20 63690212 splice donor variant T/A snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555812178
rs1555812178 		1.000 20 63690803 splice acceptor variant A/G snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555812228
rs1555812228 		1.000 20 63690922 frameshift variant G/- delins
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555812480
rs1555812480 		1.000 20 63691819 frameshift variant C/- delins
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555812834
rs1555812834 		1.000 20 63692803 splice acceptor variant A/C snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555813123
rs1555813123 		1.000 20 63693149 frameshift variant A/- del
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555813144
rs1555813144 		1.000 20 63693172 stop gained A/T snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555814044
rs1555814044 		1.000 20 63694478 frameshift variant -/C delins
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555814334
rs1555814334 		1.000 20 63694961 frameshift variant C/- delins
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555814400
rs1555814400 		1.000 0.120 20 63695091 frameshift variant C/- delins
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555899096
rs1555899096 		1.000 0.120 20 63659451 missense variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555899640
rs1555899640 		1.000 0.040 20 63661935 frameshift variant TC/- delins
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1555899932
rs1555899932 		0.925 20 63662886 stop gained G/T snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555899932
rs1555899932 		0.925 20 63662886 stop gained G/T snv
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0