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rs370933531

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs370933531(G;G)
Make rs370933531(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position83857238
GeneRIPPLY2
is asnp
is mentioned by
dbSNPrs370933531
ebirs370933531
HLIrs370933531
Exacrs370933531
Varsomers370933531
Maprs370933531
PheGenIrs370933531
hapmaprs370933531
1000 genomesrs370933531
hgdprs370933531
ensemblrs370933531
gopubmedrs370933531
geneviewrs370933531
scholarrs370933531
googlers370933531
pharmgkbrs370933531
gwascentralrs370933531
openSNPrs370933531
23andMers370933531
23andMe allrs370933531
SNP Nexus

SNPshotrs370933531
SNPdbers370933531
MSV3drs370933531
GWAS Ctlgrs370933531
Max Magnitude0
ClinVar
Risk rs370933531(G;G)
Alt rs370933531(G;G)
Reference rs370933531(T;T)
Significance Pathogenic
Disease Spondylocostal dysostosis 6
Variation info
Gene RIPPLY2
CLNDBN Spondylocostal dysostosis 6, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.84566957T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000207041.1,