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rs869025194

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025194(A;A)
Make rs869025194(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position155904496
GeneRIT1
is asnp
is mentioned by
dbSNPrs869025194
ebirs869025194
HLIrs869025194
Exacrs869025194
Varsomers869025194
Maprs869025194
PheGenIrs869025194
hapmaprs869025194
1000 genomesrs869025194
hgdprs869025194
ensemblrs869025194
gopubmedrs869025194
geneviewrs869025194
scholarrs869025194
googlers869025194
pharmgkbrs869025194
gwascentralrs869025194
openSNPrs869025194
23andMers869025194
23andMe allrs869025194
SNP Nexus

SNPshotrs869025194
SNPdbers869025194
MSV3drs869025194
GWAS Ctlgrs869025194
Max Magnitude0
ClinVar
Risk rs869025194(A,C,G;A,C,G)
Alt rs869025194(A,C,G;A,C,G)
Reference rs869025194(T;T)
Significance Pathogenic
Disease Noonan syndrome 8 Noonan syndrome
Variation info
Gene RIT1
CLNDBN Noonan syndrome 8 Noonan syndrome
Reversed 1
HGVS NC_000001.10:g.155874287A>C; NC_000001.10:g.155874287A>G; NC_000001.10:g.155874287A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170492.3, RCV000207352.1, RCV000207346.1, RCV000207338.1, RCV000226825.1,