Source: CLINVAR

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: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3
0.800 1.000 1 2006 2008
dbSNP: rs121908594
rs121908594
0.925 0.160 15 66435104 missense variant T/C snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3
0.800 1.000 0 2006 2008
dbSNP: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.720 1.000 13 2006 2018
dbSNP: rs1057519731
rs1057519731
0.925 0.040 15 66436816 missense variant G/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.720 1.000 4 2011 2014
dbSNP: rs397516792
rs397516792
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.720 1.000 4 2009 2015
dbSNP: rs1057519729
rs1057519729
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.720 1.000 3 1995 2016
dbSNP: rs727504317
rs727504317
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.710 1.000 2 2007 2016
dbSNP: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 2002 2017
dbSNP: rs397516793
rs397516793
0.925 0.160 15 66436842 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 2002 2017
dbSNP: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0009806
Disease: Constipation
Constipation
0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 1.000 7 2006 2009
dbSNP: rs397516792
rs397516792
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 6 2007 2017
dbSNP: rs397516793
rs397516793
0.925 0.160 15 66436842 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 6 2006 2018
dbSNP: rs727504317
rs727504317
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 5 2007 2014
dbSNP: rs727504317
rs727504317
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 4 2007 2012
dbSNP: rs1057519732
rs1057519732
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 3 2009 2012
dbSNP: rs1057519733
rs1057519733
1.000 0.040 15 66481793 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 3 2009 2013
dbSNP: rs1057519729
rs1057519729
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2009 2013
dbSNP: rs1057519730
rs1057519730
1.000 0.040 15 66436786 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2011 2012
dbSNP: rs1057519734
rs1057519734
1.000 0.040 15 66485086 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2011 2012
dbSNP: rs1057519805
rs1057519805
1.000 0.040 15 66436839 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2009 2013
dbSNP: rs1057519823
rs1057519823
15 66481830 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.700 1.000 2 2009 2013
dbSNP: rs397516790
rs397516790
0.925 0.200 15 66435115 missense variant A/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 2 2008 2010