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rs727503094

From SNPedia

Orientationminus
Geno Mag Summary
(GCG;GCG) 0 common in clinvar
Make rs727503094(AA;AA)
Make rs727503094(AA;GC)
Make rs727503094(GC;GC)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position534287
GeneHRAS, LRRC56
is asnp
is mentioned by
dbSNPrs727503094
ebirs727503094
HLIrs727503094
Exacrs727503094
Varsomers727503094
Maprs727503094
PheGenIrs727503094
hapmaprs727503094
1000 genomesrs727503094
hgdprs727503094
ensemblrs727503094
gopubmedrs727503094
geneviewrs727503094
scholarrs727503094
googlers727503094
pharmgkbrs727503094
gwascentralrs727503094
openSNPrs727503094
23andMers727503094
23andMe allrs727503094
SNP Nexus

SNPshotrs727503094
SNPdbers727503094
MSV3drs727503094
GWAS Ctlgrs727503094
Max Magnitude0
ClinVar
Risk rs727503094(AAG,ATG,CTG;AAG,ATG,CTG)
Alt rs727503094(AAG,ATG,CTG;AAG,ATG,CTG)
Reference rs727503094(GCG;GCG)
Significance Pathogenic
Disease Rasopathy Costello syndrome
Variation info
Gene HRAS
CLNDBN Rasopathy Costello syndrome
Reversed 1
HGVS NC_000011.9:g.534287_534288delGCinsAG; NC_000011.9:g.534287_534288delGCinsAT; NC_000011.9:g.534287_534288delinsTT
CLNSRC
CLNACC RCV000157929.1, RCV000157925.1, RCV000150836.1,