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: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010
dbSNP: rs397516828
rs397516828
RAF1
0.925 0.160 3 12604188 missense variant G/A;C snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010
dbSNP: rs397516830
rs397516830
RAF1
0.827 0.160 3 12604182 missense variant A/C;G;T snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010
dbSNP: rs80338797
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010
dbSNP: rs80338799
rs80338799
RAF1
0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010
dbSNP: rs886039607
rs886039607
RAF1
0.925 0.160 3 12608842 missense variant C/G snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.700 0