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rs201419367

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs201419367(A;T)
Make rs201419367(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position83854160
GeneRIPPLY2
is asnp
is mentioned by
dbSNPrs201419367
ebirs201419367
HLIrs201419367
Exacrs201419367
Varsomers201419367
Maprs201419367
PheGenIrs201419367
hapmaprs201419367
1000 genomesrs201419367
hgdprs201419367
ensemblrs201419367
gopubmedrs201419367
geneviewrs201419367
scholarrs201419367
googlers201419367
pharmgkbrs201419367
gwascentralrs201419367
openSNPrs201419367
23andMers201419367
23andMe allrs201419367
SNP Nexus

SNPshotrs201419367
SNPdbers201419367
MSV3drs201419367
GWAS Ctlgrs201419367
Max Magnitude0
ClinVar
Risk rs201419367(T;T)
Alt rs201419367(T;T)
Reference rs201419367(A;A)
Significance Pathogenic
Disease Spondylocostal dysostosis 6
Variation info
Gene RIPPLY2
CLNDBN Spondylocostal dysostosis 6, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.84563879A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207268.1,