Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0266368
Disease: Congenital absence of ovary
Congenital absence of ovary 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C1837246
Disease: Intracerebral periventricular calcifications
Intracerebral periventricular calcifications 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0