DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Disease: SCLEROSING CHOLANGITIS, NEONATAL ×
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: rs1042640142
rs1042640142 		1.000 6 24357700 missense variant C/G;T snv
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.800 0
dbSNP: rs904944428
rs904944428 		0.925 0.120 6 24301743 frameshift variant T/-;TT delins
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 1.000 1 2016 2016
dbSNP: rs1050411259
rs1050411259 		1.000 6 24278081 stop gained A/T snv 8.0E-06
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 0
dbSNP: rs1554117600
rs1554117600 		1.000 6 24301715 splice acceptor variant TGAACAGCCCCGCTCCTCAGAGTGATTTTTTCTGTGACCATTTGTAGTACATGATCCCACTGATTCAAGGTTTTTCTGGGGATAAGGAGGCGAGAAGCTGGGTTTATGAGGTCTCCATTTGCAATCAAGCTG/- delins
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 0
dbSNP: rs730880299
rs730880299 		0.925 6 24290987 stop gained T/A snv
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 0
dbSNP: rs757704417
rs757704417 		0.925 6 24357627 frameshift variant AC/- delins 1.6E-05 7.0E-06
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 0
dbSNP: rs938050921
rs938050921 		0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.010 1.000 1 2019 2019