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rs121434620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434620(C;T)
Make rs121434620(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50607876
GeneSHROOM4
is asnp
is mentioned by
dbSNPrs121434620
ebirs121434620
HLIrs121434620
Exacrs121434620
Varsomers121434620
Maprs121434620
PheGenIrs121434620
hapmaprs121434620
1000 genomesrs121434620
hgdprs121434620
ensemblrs121434620
gopubmedrs121434620
geneviewrs121434620
scholarrs121434620
googlers121434620
pharmgkbrs121434620
gwascentralrs121434620
openSNPrs121434620
23andMers121434620
23andMe allrs121434620
SNP Nexus

SNPshotrs121434620
SNPdbers121434620
MSV3drs121434620
GWAS Ctlgrs121434620
Max Magnitude0
OMIM300579
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434620(T;T)
Alt rs121434620(T;T)
Reference rs121434620(C;C)
Significance Pathogenic
Disease Stocco dos Santos syndrome
Variation info
Gene SHROOM4
CLNDBN Stocco dos Santos syndrome
Reversed 1
HGVS NC_000023.10:g.50350876G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011542.7,