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rs869025191

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025191(A;A)
Make rs869025191(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position155904739
GeneRIT1
is asnp
is mentioned by
dbSNPrs869025191
dbSNP (classic)rs869025191
ClinGenrs869025191
ebirs869025191
HLIrs869025191
Exacrs869025191
Gnomadrs869025191
Varsomers869025191
LitVarrs869025191
Maprs869025191
PheGenIrs869025191
Biobankrs869025191
1000 genomesrs869025191
hgdprs869025191
ensemblrs869025191
geneviewrs869025191
scholarrs869025191
googlers869025191
pharmgkbrs869025191
gwascentralrs869025191
openSNPrs869025191
23andMers869025191
SNPshotrs869025191
SNPdbers869025191
MSV3drs869025191
GWAS Ctlgrs869025191
Max Magnitude0
ClinVar
Risk rs869025191(A;A) rs869025191(C;C)
Alt rs869025191(A;A) rs869025191(C;C)
Reference Rs869025191(G;G)
Significance Pathogenic
Disease Noonan syndrome Noonan syndrome 8 not provided
Variation info
Gene RIT1
CLNDBN Noonan syndrome Noonan syndrome 8 not provided
Reversed 1
HGVS NC_000001.10:g.155874530C>G; NC_000001.10:g.155874530C>T
CLNSRC
CLNACC RCV000218943.1, RCV000467706.1, RCV000207340.1, RCV000282691.1,