rs727505017, RAF1

N. diseases: 3
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
153 0.882 0.200 3 12604201 missense variant A/G;T snv 0.700 1.000 3 2002 2007
melanoma
CUI: C0025202
Disease: melanoma
129 0.882 0.200 3 12604201 missense variant A/G;T snv 0.700 1.000 1 2013 2013
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.882 0.200 3 12604201 missense variant A/G;T snv 0.700 0