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: 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: rs1555901000
rs1555901000 		1.000 20 63667484 stop gained C/A snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555901832
rs1555901832 		1.000 20 63674071 frameshift variant C/- del
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs377024903
rs377024903 		1.000 20 63690205 stop gained C/G;T snv 4.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs377461417
rs377461417 		1.000 20 63694739 splice acceptor variant A/C;T snv 1.7E-05; 4.2E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs398123048
rs398123048 		1.000 20 63689821 missense variant C/G snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs398123049
rs398123049 		1.000 20 63690178 missense variant G/A snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs398123051
rs398123051 		1.000 20 63688578 missense variant G/A;T snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs752833281
rs752833281 		1.000 20 63691769 frameshift variant TCTG/- delins
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs773025155
rs773025155 		1.000 20 63662608 frameshift variant AA/- del 1.2E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs778734749
rs778734749 		1.000 20 63695098 stop gained C/G;T snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs780546933
rs780546933 		1.000 20 63667503 stop gained C/G;T snv 8.0E-06; 8.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs895722334
rs895722334 		1.000 20 63678347 splice donor variant G/T snv 8.3E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs980695424
rs980695424 		1.000 20 63695064 splice acceptor variant A/G snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0