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rs869025193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025193(A;G)
Make rs869025193(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position155904498
GeneRIT1
is asnp
is mentioned by
dbSNPrs869025193
dbSNP (old)rs869025193
ClinGenrs869025193
ebirs869025193
HLIrs869025193
Exacrs869025193
Gnomadrs869025193
Varsomers869025193
Maprs869025193
PheGenIrs869025193
Biobankrs869025193
1000 genomesrs869025193
hgdprs869025193
ensemblrs869025193
gopubmedrs869025193
geneviewrs869025193
scholarrs869025193
googlers869025193
pharmgkbrs869025193
gwascentralrs869025193
openSNPrs869025193
23andMers869025193
23andMe allrs869025193
SNP Nexus

SNPshotrs869025193
SNPdbers869025193
MSV3drs869025193
GWAS Ctlgrs869025193
Max Magnitude0
ClinVar
Risk rs869025193(G;G)
Alt rs869025193(G;G)
Reference Rs869025193(A;A)
Significance Pathogenic
Disease Noonan syndrome 8 Noonan syndrome not provided
Variation info
Gene RIT1
CLNDBN Noonan syndrome 8 Noonan syndrome not provided
Reversed 1
HGVS NC_000001.10:g.155874289T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000054405.3, RCV000207350.1, RCV000255048.1,