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
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 0.975 160 2004 2020
dbSNP: rs180177035
rs180177035
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 20 2006 2018
dbSNP: rs180177034
rs180177034
0.882 0.200 7 140801536 missense variant C/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 6 2006 2014
dbSNP: rs397507466
rs397507466
0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 3 2009 2014
dbSNP: rs180177037
rs180177037
1.000 0.160 7 140778013 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 2 2008 2014
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.979 477 2002 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 0.947 475 2003 2020
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.981 464 2002 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 0.959 387 2003 2019
dbSNP: rs121913227
rs121913227
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 54 2002 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 1.000 30 2002 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.800 1.000 26 2003 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.800 1.000 21 2011 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.800 1.000 15 2011 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 1.000 15 2002 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.800 1.000 14 2008 2019
dbSNP: rs121913364
rs121913364
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 14 2002 2015
dbSNP: rs121913351
rs121913351
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 1.000 13 2002 2014
dbSNP: rs180177040
rs180177040
0.790 0.360 7 140754187 missense variant T/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 13 2006 2014
dbSNP: rs180177032
rs180177032
1.000 0.080 7 140781623 missense variant C/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 10 2006 2015
dbSNP: rs180177033
rs180177033
1.000 0.080 7 140781620 missense variant A/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 10 2006 2015
dbSNP: rs397507473
rs397507473
1.000 0.160 7 140781605 missense variant A/G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 8 2006 2009
dbSNP: rs121913364
rs121913364
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 7 2006 2016
dbSNP: rs397507483
rs397507483
0.790 0.400 7 140753348 missense variant C/A;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 7 2006 2009
dbSNP: rs180177036
rs180177036
0.925 0.200 7 140778053 missense variant C/A;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 6 2006 2014