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rs730881014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730881014(G;G)
Make rs730881014(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position155904494
GeneRIT1
is asnp
is mentioned by
dbSNPrs730881014
dbSNP (classic)rs730881014
ClinGenrs730881014
ebirs730881014
HLIrs730881014
Exacrs730881014
Gnomadrs730881014
Varsomers730881014
LitVarrs730881014
Maprs730881014
PheGenIrs730881014
Biobankrs730881014
1000 genomesrs730881014
hgdprs730881014
ensemblrs730881014
geneviewrs730881014
scholarrs730881014
googlers730881014
pharmgkbrs730881014
gwascentralrs730881014
openSNPrs730881014
23andMers730881014
SNPshotrs730881014
SNPdbers730881014
MSV3drs730881014
GWAS Ctlgrs730881014
Max Magnitude0
ClinVar
Risk rs730881014(A;A) rs730881014(G;G)
Alt rs730881014(A;A) rs730881014(G;G)
Reference Rs730881014(T;T)
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.155874285A>C; NC_000001.10:g.155874285A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000054406.3, RCV000159101.3, RCV000207343.1, RCV000408903.1, RCV000427451.1,