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rs672601334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs672601334(C;G)
Make rs672601334(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position155904798
GeneRIT1
is asnp
is mentioned by
dbSNPrs672601334
dbSNP (classic)rs672601334
ClinGenrs672601334
ebirs672601334
HLIrs672601334
Exacrs672601334
Gnomadrs672601334
Varsomers672601334
LitVarrs672601334
Maprs672601334
PheGenIrs672601334
Biobankrs672601334
1000 genomesrs672601334
hgdprs672601334
ensemblrs672601334
geneviewrs672601334
scholarrs672601334
googlers672601334
pharmgkbrs672601334
gwascentralrs672601334
openSNPrs672601334
23andMers672601334
SNPshotrs672601334
SNPdbers672601334
MSV3drs672601334
GWAS Ctlgrs672601334
Max Magnitude0
ClinVar
Risk rs672601334(G;G)
Alt rs672601334(G;G)
Reference Rs672601334(C;C)
Significance Pathogenic
Disease Noonan syndrome 8 not provided Noonan syndrome
Variation info
Gene RIT1
CLNDBN Noonan syndrome 8 not provided Noonan syndrome
Reversed 1
HGVS NC_000001.10:g.155874589G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000054404.3, RCV000159100.3, RCV000207349.2,