CDKN1C, cyclin dependent kinase inhibitor 1C, 1028

N. diseases: 298; N. variants: 32
Disease: Beckwith-Wiedemann Syndrome ×
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: rs483352966
rs483352966 		1.000 0.040 11 2885456 start lost T/G snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 1999 2015
dbSNP: rs483352968
rs483352968 		1.000 0.040 11 2885332 missense variant A/G snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 1999 2015
dbSNP: rs483352970
rs483352970 		1.000 0.040 11 2885281 missense variant G/A;T snv 7.0E-06
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 1999 2015
dbSNP: rs483352981
rs483352981 		1.000 0.040 11 2885018 missense variant G/C snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 1999 2015
dbSNP: rs104894200
rs104894200 		1.000 0.040 11 2884750 stop gained G/A;T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 1997 1997
dbSNP: rs137852766
rs137852766 		1.000 0.040 11 2885351 stop gained G/A snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554937726
rs1554937726 		1.000 0.040 11 2884727 frameshift variant CGGTGCCGGCCG/GCAC delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554937847
rs1554937847 		1.000 0.040 11 2884854 frameshift variant -/GCGGGGGCCGGGGCCGGGGCCGGGG delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554938087
rs1554938087 		1.000 0.040 11 2885099 frameshift variant TCGAGGCC/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554938194
rs1554938194 		1.000 0.040 11 2885294 frameshift variant G/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554938197
rs1554938197 		1.000 0.040 11 2885300 frameshift variant -/CCAGCTGGAA ins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1564929426
rs1564929426 		1.000 0.040 11 2884784 stop gained C/A snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1564929520
rs1564929520 		1.000 0.040 11 2884817 stop gained C/A snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1564929584
rs1564929584 		1.000 0.040 11 2884843 frameshift variant G/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs267606716
rs267606716 		1.000 0.040 11 2884110 stop gained G/C;T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs387906399
rs387906399 		1.000 0.040 11 2885179 frameshift variant AG/C delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587777866
rs587777866 		1.000 0.040 11 2883997 splice donor variant A/G snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs786205234
rs786205234 		1.000 0.040 11 2885041 frameshift variant G/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs786205235
rs786205235 		1.000 0.040 11 2885156 frameshift variant -/G delins 8.1E-06
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs786205236
rs786205236 		1.000 0.040 11 2885089 frameshift variant -/C delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs786205237
rs786205237 		1.000 0.040 11 2884855 frameshift variant G/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs786205239
rs786205239 		1.000 0.040 11 2884859 frameshift variant C/TT delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs786205240
rs786205240 		1.000 0.040 11 2884846 frameshift variant GCCG/CCC delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs786205241
rs786205241 		1.000 0.040 11 2884860 frameshift variant -/AGCGGGGCCGG delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs797045445
rs797045445 		1.000 0.040 11 2884796 stop gained G/A snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0