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: rs180177032
rs180177032
BRAF
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
BRAF
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: rs1057519719
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 8 2002 2013
dbSNP: rs397507473
rs397507473
BRAF
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: rs397507470
rs397507470
BRAF
1.000 0.160 7 140801488 missense variant G/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2006 2009
dbSNP: rs397507486
rs397507486
BRAF
1.000 0.160 7 140739813 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2006 2009
dbSNP: rs869025606
rs869025606
BRAF
1.000 0.160 7 140781609 missense variant A/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 4 2006 2009
dbSNP: rs121913363
rs121913363
BRAF
1.000 0.040 7 140753361 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2014 2015
dbSNP: rs121913371
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2007 2014
dbSNP: rs180177037
rs180177037
BRAF
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: rs397507465
rs397507465
BRAF
1.000 0.160 7 140801542 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 2 2007 2008
dbSNP: rs1057519719
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs11762469
rs11762469
BRAF
1.000 0.080 7 140914412 intron variant A/G;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs11762469
rs11762469
BRAF
1.000 0.080 7 140914412 intron variant A/G;T snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs121913225
rs121913225
BRAF
1.000 0.040 7 140753351 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913226
rs121913226
BRAF
1.000 0.040 7 140753332 inframe deletion TTT/- del
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913371
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0009806
Disease: Constipation
Constipation 		0.010 1.000 1 2004 2004
dbSNP: rs121913371
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0018932
Disease: Hematochezia
Hematochezia 		0.010 1.000 1 2004 2004
dbSNP: rs121913372
rs121913372
BRAF
1.000 0.040 7 140753321 missense variant CT/AA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913373
rs121913373
BRAF
1.000 0.040 7 140753321 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1267636
rs1267636
BRAF
1.000 0.080 7 140792239 intron variant T/C snv 0.11
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs1370423184
rs1370423184
BRAF
1.000 0.080 7 140778018 missense variant G/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1639679
rs1639679
BRAF
1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2005 2005
dbSNP: rs17161747
rs17161747
BRAF
1.000 0.080 7 140858940 intron variant G/C snv 5.5E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs17623204
rs17623204
BRAF
1.000 0.080 7 140806604 intron variant T/A snv 5.5E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 < 0.001 1 2016 2016