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rs104894360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 7 Noonan syndrome
Make rs104894360(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position25209904
GeneKRAS
is asnp
is mentioned by
dbSNPrs104894360
dbSNP (classic)rs104894360
ClinGenrs104894360
ebirs104894360
HLIrs104894360
Exacrs104894360
Gnomadrs104894360
Varsomers104894360
LitVarrs104894360
Maprs104894360
PheGenIrs104894360
Biobankrs104894360
1000 genomesrs104894360
hgdprs104894360
ensemblrs104894360
geneviewrs104894360
scholarrs104894360
googlers104894360
pharmgkbrs104894360
gwascentralrs104894360
openSNPrs104894360
23andMers104894360
SNPshotrs104894360
SNPdbers104894360
MSV3drs104894360
GWAS Ctlgrs104894360
Max Magnitude7

aka c.458A>T (p.Asp153Val)

23andMe name: i5002716

OMIM190070
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894360(G;G) rs104894360(T;T)
Alt rs104894360(G;G) rs104894360(T;T)
Reference Rs104894360(A;A)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 Rasopathy not provided Noonan syndrome
Variation info
Gene KRAS
CLNDBN Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 Rasopathy not provided Noonan syndrome
Reversed 1
HGVS NC_000012.11:g.25362838T>A; NC_000012.11:g.25362838T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013417.23, RCV000013418.29, RCV000157940.1, RCV000212501.1, RCV000038274.2, RCV000157939.1,