DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Disease: NEPHRONOPHTHISIS 19 ×
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: rs730880299
rs730880299 		0.925 6 24290987 stop gained T/A snv
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.700 0
dbSNP: rs757704417
rs757704417 		0.925 6 24357627 frameshift variant AC/- delins 1.6E-05 7.0E-06
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.700 0
dbSNP: rs760040426
rs760040426 		1.000 6 24302046 splice acceptor variant T/C snv 2.5E-05
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.700 0
dbSNP: rs909339162
rs909339162 		1.000 6 24278202 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.700 0