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: rs121434594
rs121434594
RAF1
0.827 0.160 3 12604189 missense variant G/A;C;T snv
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.700 0
dbSNP: rs121434594
rs121434594
RAF1
0.827 0.160 3 12604189 missense variant G/A;C;T snv
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 0
dbSNP: rs397516813
rs397516813
RAF1
0.925 0.160 3 12599717 missense variant C/G snv
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 0
dbSNP: rs397516822
rs397516822
RAF1
1.000 0.160 3 12608823 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs397516825
rs397516825
RAF1
1.000 0.160 3 12604204 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 0
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.700 0
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C4020951
Disease: Pointed helix
Pointed helix 		0.700 0
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs397516830
rs397516830
RAF1
0.827 0.160 3 12604182 missense variant A/C;G;T snv
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 0
dbSNP: rs397516830
rs397516830
RAF1
0.827 0.160 3 12604182 missense variant A/C;G;T snv
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.700 0
dbSNP: rs587777587
rs587777587
RAF1
1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs587782971
rs587782971
RAF1
1.000 0.160 3 12608895 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs587782972
rs587782972
RAF1
1.000 0.160 3 12591729 missense variant C/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs727503384
rs727503384
RAF1
1.000 0.160 3 12611985 missense variant G/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs727505017
rs727505017
RAF1
0.882 0.200 3 12604201 missense variant A/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730881003
rs730881003
RAF1
1.000 0.160 3 12585794 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0239676
Disease: High forehead
High forehead 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.700 0