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rs672601335

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601335(C;C)
Make rs672601335(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position155904456
GeneRIT1
is asnp
is mentioned by
dbSNPrs672601335
ebirs672601335
HLIrs672601335
Exacrs672601335
Varsomers672601335
Maprs672601335
PheGenIrs672601335
hapmaprs672601335
1000 genomesrs672601335
hgdprs672601335
ensemblrs672601335
gopubmedrs672601335
geneviewrs672601335
scholarrs672601335
googlers672601335
pharmgkbrs672601335
gwascentralrs672601335
openSNPrs672601335
23andMers672601335
23andMe allrs672601335
SNP Nexus

SNPshotrs672601335
SNPdbers672601335
MSV3drs672601335
GWAS Ctlgrs672601335
Max Magnitude0
ClinVar
Risk rs672601335(C;C)
Alt rs672601335(C;C)
Reference rs672601335(G;G)
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.155874247C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054407.4, RCV000207348.2,