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: 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: 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: rs1553630472
rs1553630472
CTNNB1
1.000 3 41225721 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
3 41233416 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
3 41233416 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 22 1991 2017
dbSNP: rs1553632361
rs1553632361
CTNNB1
3 41236468 frameshift variant AG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs775104326
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs775104326
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1991 2017
dbSNP: rs775104326
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 22 1991 2017
dbSNP: rs778624338
rs778624338
CTNNB1
1.000 0.080 3 41227270 stop gained C/A;T snv 2.0E-05 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875
CTNNB1
1.000 3 41235763 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875
CTNNB1
1.000 3 41235763 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875
CTNNB1
1.000 3 41235763 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 2017
dbSNP: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 10 2006 2015
dbSNP: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.090 1.000 9 2013 2019
dbSNP: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 8 1997 2014
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.810 1.000 7 1999 2017
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 7 1997 2004
dbSNP: rs121913407
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 7 1997 2004
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 1.000 7 1998 2019
dbSNP: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.800 1.000 6 1999 2017