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: rs121913413
rs121913413
0.763 0.240 3 41224634 missense variant C/A;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 1.000 6 1999 2017
dbSNP: rs28931589
rs28931589
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 1.000 6 1999 2017
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.060 1.000 6 2015 2019
dbSNP: rs28931588
rs28931588
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.820 1.000 5 1999 2009
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.810 1.000 5 2000 2016
dbSNP: rs121913407
rs121913407
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 1.000 5 1999 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 1.000 5 2002 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.820 1.000 3 2016 2018
dbSNP: rs121913228
rs121913228
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: rs121913396
rs121913396
0.732 0.200 3 41224607 missense variant A/C;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 1.000 3 2013 2017
dbSNP: rs28931589
rs28931589
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.710 1.000 3 2014 2016
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.700 1.000 3 2008 2013
dbSNP: rs1553630279
rs1553630279
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.700 1.000 3 1989 2017
dbSNP: rs1553630279
rs1553630279
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.700 1.000 3 1989 2017
dbSNP: rs1553630279
rs1553630279
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0023882
Disease: Little's Disease
Little's Disease
0.700 1.000 3 1989 2017
dbSNP: rs1553630279
rs1553630279
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
0.700 1.000 3 1989 2017
dbSNP: rs1553630279
rs1553630279
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.700 1.000 3 1989 2017
dbSNP: rs1553630279
rs1553630279
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C3887926
Disease: CATARACT 32, MULTIPLE TYPES
CATARACT 32, MULTIPLE TYPES
0.700 1.000 3 1989 2017
dbSNP: rs1553630279
rs1553630279
0.807 0.160 3 41225049 stop gained C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
0.700 1.000 3 1989 2017
dbSNP: rs121913228
rs121913228
0.742 0.200 3 41224621 missense variant T/C;G snv
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma
0.030 1.000 3 2007 2012
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2011 2019
dbSNP: rs121913407
rs121913407
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.810 1.000 2 2015 2016
dbSNP: rs121913413
rs121913413
0.763 0.240 3 41224634 missense variant C/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.810 1.000 2 2015 2016
dbSNP: rs1057519837
rs1057519837
1.000 0.040 3 41224631 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 2 2011 2014
dbSNP: rs121913399
rs121913399
0.724 0.200 3 41224612 missense variant G/A;C snv
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.710 1.000 2 2009 2014