Source: CURATED

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: 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: 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: 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: rs1057519836
rs1057519836
CTNNB1
3 41224630 missense variant A/C;G;T snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1057519836
rs1057519836
CTNNB1
3 41224630 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1057519837
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057519837
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2011 2014
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1064796453
rs1064796453
CTNNB1
3 41235799 stop gained C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 22 1991 2017
dbSNP: rs1064796453
rs1064796453
CTNNB1
3 41235799 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
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: rs121913228
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 1.000 3 2000 2016
dbSNP: rs121913228
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121913228
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016