Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913535
rs121913535
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.720 GeneticVariation BEFREE We used KRAS mutant (G13C/WT) and wild-type isogenic (WT/WT) iPSCs from the same RALD patients, as well as wild-type (WT<sup>ed</sup>/WT) and heterozygous knockout (Δ<sup>ed</sup>/WT) iPSCs, both obtained by genome editing from the same G13C/WT clone. 29983389 2018
dbSNP: rs121913535
rs121913535
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.720 GeneticVariation BEFREE By harnessing the transformative power of next generation sequencing, we made the unifying diagnosis of RAS-associated autoimmune leukoproliferative disease (RALD), caused by the somatic gain-of-function p.G13C KRAS mutation, in a boy with the seemingly unrelated immune dysregulatory conditions of Rosai-Dorfman and systemic lupus erythematosus (SLE). 28043923 2017
dbSNP: rs121913535
rs121913535
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
A 0.720 CausalMutation CLINVAR
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
C 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405 2006
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
A 0.700 CausalMutation CLINVAR
dbSNP: rs112445441
rs112445441
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913529
rs121913529
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
T 0.700 CausalMutation CLINVAR
dbSNP: rs730880471
rs730880471
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
T 0.700 GeneticVariation CLINVAR