Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 ×
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: rs370343781
rs370343781 		0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.800 1.000 8 2009 2016
dbSNP: rs398123018
rs398123018 		0.925 0.120 20 63693160 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.800 1.000 6 2013 2017
dbSNP: rs201540674
rs201540674 		0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 6 2013 2015
dbSNP: rs1470145133
rs1470145133 		1.000 20 63693183 missense variant T/G snv 4.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs398123016
rs398123016 		1.000 20 63690161 missense variant G/T snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs398123017
rs398123017 		0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2017
dbSNP: rs398123019
rs398123019 		1.000 20 63672607 missense variant G/A snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs373740199
rs373740199 		0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 4 2013 2017
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: 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: 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: 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: 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