Gene: CDKN1C ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352966
rs483352966
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs483352968
rs483352968
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs483352970
rs483352970
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs483352981
rs483352981
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs483352966
rs483352966
CDKN1C
0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811

1999
dbSNP: rs483352968
rs483352968
CDKN1C
0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811

1999
dbSNP: rs483352970
rs483352970
CDKN1C
0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811

1999
dbSNP: rs483352981
rs483352981
CDKN1C
0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811

1999
dbSNP: rs104894200
rs104894200
CDKN1C
T 0.700 CausalMutation CLINVAR New p57KIP2 mutations in Beckwith-Wiedemann syndrome. 9341892

1997
dbSNP: rs137852766
rs137852766
CDKN1C
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554937726
rs1554937726
CDKN1C
GCAC 0.700 GeneticVariation CLINVAR

dbSNP: rs1554937847
rs1554937847
CDKN1C
CGGGGCGGGGGCCGGGGCCGGGGCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1554938087
rs1554938087
CDKN1C
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554938194
rs1554938194
CDKN1C
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554938197
rs1554938197
CDKN1C
CCCAGCTGGAA 0.700 CausalMutation CLINVAR

dbSNP: rs1564929426
rs1564929426
CDKN1C
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564929520
rs1564929520
CDKN1C
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564929584
rs1564929584
CDKN1C
C 0.700 CausalMutation CLINVAR

dbSNP: rs267606716
rs267606716
CDKN1C
C 0.700 CausalMutation CLINVAR

dbSNP: rs267606716
rs267606716
CDKN1C
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906399
rs387906399
CDKN1C
C 0.700 CausalMutation CLINVAR

dbSNP: rs587777866
rs587777866
CDKN1C
G 0.700 CausalMutation CLINVAR

dbSNP: rs786205234
rs786205234
CDKN1C
T 0.700 CausalMutation CLINVAR

dbSNP: rs786205235
rs786205235
CDKN1C
CG 0.700 CausalMutation CLINVAR

dbSNP: rs786205236
rs786205236
CDKN1C
TC 0.700 CausalMutation CLINVAR