Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs748653573
rs748653573
CTNNB1
0.882 0.080 3 41238067 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		0.800 0
dbSNP: rs1057519379
rs1057519379
CTNNB1
0.882 0.080 3 41233777 frameshift variant -/C ins
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1057519379
rs1057519379
CTNNB1
0.882 0.080 3 41233777 frameshift variant -/C ins
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.700 0
dbSNP: rs1057519380
rs1057519380
CTNNB1
0.925 0.080 3 41239137 stop gained -/TAGCTATCGTTCTTTT delins
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		0.700 0
dbSNP: rs1057519380
rs1057519380
CTNNB1
0.925 0.080 3 41239137 stop gained -/TAGCTATCGTTCTTTT delins
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.700 0
dbSNP: rs1131692181
rs1131692181
CTNNB1
0.925 0.040 3 41234286 stop gained C/T snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C2675440
Disease: Desmoid Tumor Caused By Somatic Mutation
Desmoid Tumor Caused By Somatic Mutation 		0.700 0
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 0
dbSNP: rs121913413
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs1369821061
rs1369821061
CTNNB1
1.000 3 41224980 stop gained C/A;T snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1413975856
rs1413975856
CTNNB1
1.000 0.080 3 41224579 missense variant A/C snv 7.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 0
dbSNP: rs1553630304
rs1553630304
CTNNB1
1.000 3 41225138 stop gained -/CAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC delins
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1553630507
rs1553630507
CTNNB1
1.000 3 41225790 frameshift variant ACA/CC delins
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1553631860
rs1553631860
CTNNB1
1.000 3 41233763 stop gained C/T snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1553631896
rs1553631896
CTNNB1
1.000 0.080 3 41233836 frameshift variant -/A delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 0
dbSNP: rs1553632357
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.700 0
dbSNP: rs1553632357
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv
CUI: C0039538
Disease: Teratoma
Teratoma 		0.700 0
dbSNP: rs1553632357
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1553632357
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553632357
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1559468403
rs1559468403
CTNNB1
1.000 3 41225208 splice donor variant G/C snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins
CUI: C3665983
Disease: Oral aversion
Oral aversion 		0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins
CUI: C4023443
Disease: Absent antitragus
Absent antitragus 		0.700 0