rs387907225
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
T
0.800
CausalMutation
CLINVAR
rs137852766
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
A
0.700
CausalMutation
CLINVAR
rs1554937726
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
GCAC
0.700
GeneticVariation
CLINVAR
rs1554937847
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
CGGGGCGGGGGCCGGGGCCGGGGCCG
0.700
CausalMutation
CLINVAR
rs1554938087
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
T
0.700
CausalMutation
CLINVAR
rs1554938194
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
T
0.700
CausalMutation
CLINVAR
rs1554938197
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
CCCAGCTGGAA
0.700
CausalMutation
CLINVAR
rs1564929426
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
A
0.700
CausalMutation
CLINVAR
rs1564929520
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
A
0.700
CausalMutation
CLINVAR
rs1564929584
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
C
0.700
CausalMutation
CLINVAR
rs267606716
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
C
0.700
CausalMutation
CLINVAR
rs267606716
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
T
0.700
CausalMutation
CLINVAR
rs387906399
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
C
0.700
CausalMutation
CLINVAR
rs587777866
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
G
0.700
CausalMutation
CLINVAR
rs786205234
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
T
0.700
CausalMutation
CLINVAR
rs786205235
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
CG
0.700
CausalMutation
CLINVAR
rs786205236
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
TC
0.700
CausalMutation
CLINVAR
rs786205237
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
C
0.700
CausalMutation
CLINVAR
rs786205239
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
TT
0.700
CausalMutation
CLINVAR
rs786205240
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
CCC
0.700
CausalMutation
CLINVAR
rs786205241
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
GGGGGCCGGAGC
0.700
CausalMutation
CLINVAR
rs797045445
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
A
0.700
CausalMutation
CLINVAR
rs886037912
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
A
0.700
CausalMutation
CLINVAR
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
25057881
2014
rs483352966
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
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
rs483352968
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
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