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rs869025189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025189(C;C)
Make rs869025189(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position155910658
GeneRIT1
is asnp
is mentioned by
dbSNPrs869025189
dbSNP (classic)rs869025189
ClinGenrs869025189
ebirs869025189
HLIrs869025189
Exacrs869025189
Gnomadrs869025189
Varsomers869025189
LitVarrs869025189
Maprs869025189
PheGenIrs869025189
Biobankrs869025189
1000 genomesrs869025189
hgdprs869025189
ensemblrs869025189
geneviewrs869025189
scholarrs869025189
googlers869025189
pharmgkbrs869025189
gwascentralrs869025189
openSNPrs869025189
23andMers869025189
SNPshotrs869025189
SNPdbers869025189
MSV3drs869025189
GWAS Ctlgrs869025189
Max Magnitude0
ClinVar
Risk rs869025189(C;C)
Alt rs869025189(C;C)
Reference Rs869025189(G;G)
Significance Pathogenic
Disease Noonan syndrome not provided Noonan syndrome 8
Variation info
Gene RIT1
CLNDBN Noonan syndrome not provided Noonan syndrome 8
Reversed 1
HGVS NC_000001.10:g.155880449C>G
CLNSRC
CLNACC RCV000207341.2, RCV000255076.2, RCV000475746.1,