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rs727503110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 7 Noonan syndrome
Make rs727503110(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position25245320
GeneKRAS
is asnp
is mentioned by
dbSNPrs727503110
dbSNP (classic)rs727503110
ClinGenrs727503110
ebirs727503110
HLIrs727503110
Exacrs727503110
Gnomadrs727503110
Varsomers727503110
LitVarrs727503110
Maprs727503110
PheGenIrs727503110
Biobankrs727503110
1000 genomesrs727503110
hgdprs727503110
ensemblrs727503110
geneviewrs727503110
scholarrs727503110
googlers727503110
pharmgkbrs727503110
gwascentralrs727503110
openSNPrs727503110
23andMers727503110
SNPshotrs727503110
SNPdbers727503110
MSV3drs727503110
GWAS Ctlgrs727503110
Max Magnitude7

aka c.65A>G (p.Gln22Arg)

ClinVar
Risk rs727503110(G;G) rs727503110(T;T)
Alt rs727503110(G;G) rs727503110(T;T)
Reference Rs727503110(A;A)
Significance Pathogenic
Disease not provided Noonan syndrome Rasopathy
Variation info
Gene KRAS
CLNDBN not provided Noonan syndrome Rasopathy
Reversed 1
HGVS NC_000012.11:g.25398254T>A; NC_000012.11:g.25398254T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000157947.1, RCV000150893.2, RCV000157667.1, RCV000157946.3,