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: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.900 0.880 34 2002 2016
dbSNP: rs180177034
rs180177034
1.000 0.143 7 140801536 missense variant C/G snp
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 5 2006 2011
dbSNP: rs121913355
rs121913355
0.699 0.393 7 140781602 stop lost C/A,G,T snp 4.0E-06
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.810 1.000 3 2002 2007
dbSNP: rs397507466
rs397507466
0.801 0.250 7 140801537 missense variant T/A,C,G snp 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 3 2009 2013
dbSNP: rs121913357
rs121913357
0.744 0.286 7 140781603 stop gained C/A,G,T snp
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.810 1.000 2 2004 2004
dbSNP: rs121913338
rs121913338
0.707 0.321 7 140753354 missense variant T/A,C,G snp
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.810 1.000 1 2004 2004
dbSNP: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.980 422 2002 2018
dbSNP: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 0.947 265 2003 2018
dbSNP: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 0.969 106 2002 2018
dbSNP: rs121913227
rs121913227
0.707 0.214 7 140753336 missense variant AC/CT,TT multinucleotide-polymorphism
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.952 41 2002 2016
dbSNP: rs121913377
rs121913377
0.638 0.393 7 140753335 missense variant CA/AT,TT multinucleotide-polymorphism
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 30 2002 2018
dbSNP: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.800 1.000 21 2003 2018
dbSNP: rs180177035
rs180177035
1.000 0.143 7 140801502 missense variant T/C snp
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 19 1993 2015
dbSNP: rs180177040
rs180177040
0.801 0.357 7 140754187 missense variant T/C,G snp
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 15 2006 2015
dbSNP: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 1.000 12 2002 2017
dbSNP: rs121913351
rs121913351
0.744 0.214 7 140781611 missense variant C/A,G,T snp 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 8 2002 2014
dbSNP: rs180177039
rs180177039
0.821 0.143 7 140778006 missense variant T/A,C,G snp
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 7 2006 2013
dbSNP: rs397507473
rs397507473
1.000 0.143 7 140781605 missense variant A/G snp 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 7 2006 2013
dbSNP: rs180177042
rs180177042
1.000 0.143 7 140749365 missense variant A/C,T snp
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 5 2006 2013
dbSNP: rs121913341
rs121913341
0.846 0.250 7 140753350 missense variant A/C,T snp
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 4 2006 2013
dbSNP: rs121913351
rs121913351
0.744 0.214 7 140781611 missense variant C/A,G,T snp 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.800 4 2002 2016
dbSNP: rs121913355
rs121913355
0.699 0.393 7 140781602 stop lost C/A,G,T snp 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 4 2006 2013
dbSNP: rs121913366
rs121913366
0.769 0.250 7 140753345 missense variant A/C,T snp
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.800 4 2002 2007
dbSNP: rs180177036
rs180177036
1.000 0.143 7 140778053 missense variant C/A,G snp
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 4 1993 2009
dbSNP: rs180177038
rs180177038
0.923 0.143 7 140778007 missense variant C/G,T snp
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 4 2006 2013