PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 ×
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: rs786200999
rs786200999 		0.925 0.120 16 14582225 missense variant G/A snv
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.800 1.000 1 2015 2015
dbSNP: rs201765587
rs201765587 		1.000 16 14627161 missense variant T/A;C snv 4.1E-06; 7.0E-05
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 1.000 1 2019 2019
dbSNP: rs1555512179
rs1555512179 		1.000 16 14629670 frameshift variant A/- delins
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs754368658
rs754368658 		1.000 16 14584383 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs756132866
rs756132866 		0.925 0.120 16 14593300 splice donor variant C/A snv 8.1E-06
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs759131762
rs759131762 		1.000 16 14608274 splice donor variant ACTT/- delins 4.6E-05 3.5E-05
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs786201001
rs786201001 		1.000 16 14593355 frameshift variant -/T delins
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs878853260
rs878853260 		0.925 16 14609114 frameshift variant -/A delins
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs942538351
rs942538351 		1.000 16 14580879 frameshift variant A/-;AA delins 1.4E-05
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 0