Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727505093
rs727505093
SOS1
C 0.700 GeneticVariation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs727505093
rs727505093
SOS1
C 0.700 GeneticVariation CLINVAR Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. 20673819

2011
dbSNP: rs727505093
rs727505093
SOS1
C 0.700 GeneticVariation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
dbSNP: rs727505093
rs727505093
SOS1
C 0.700 GeneticVariation CLINVAR Structure-based mutagenesis reveals distinct functions for Ras switch 1 and switch 2 in Sos-catalyzed guanine nucleotide exchange. 11333268

2001