rs775104326, CTNNB1

N. diseases: 10
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 1.000 22 1991 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
240 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 1.000 22 1991 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 1.000 22 1991 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
EXUDATIVE VITREORETINOPATHY 7
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
3 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
80 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
21 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
14 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0