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rs483352822

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352822(A;A)
Make rs483352822(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position155904470
GeneRIT1
is asnp
is mentioned by
dbSNPrs483352822
ebirs483352822
HLIrs483352822
Exacrs483352822
Varsomers483352822
Maprs483352822
PheGenIrs483352822
hapmaprs483352822
1000 genomesrs483352822
hgdprs483352822
ensemblrs483352822
gopubmedrs483352822
geneviewrs483352822
scholarrs483352822
googlers483352822
pharmgkbrs483352822
gwascentralrs483352822
openSNPrs483352822
23andMers483352822
23andMe allrs483352822
SNP Nexus

SNPshotrs483352822
SNPdbers483352822
MSV3drs483352822
GWAS Ctlgrs483352822
Max Magnitude0
ClinVar
Risk rs483352822(A,C;A,C)
Alt rs483352822(A,C;A,C)
Reference rs483352822(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.155874261C>G; NC_000001.10:g.155874261C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170493.3, RCV000106331.1, RCV000220792.1,