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rs864309651

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309651(-;A)
Make rs864309651(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position57230716
GeneRSPRY1
is asnp
is mentioned by
dbSNPrs864309651
ClinGenrs864309651
ebirs864309651
HLIrs864309651
Exacrs864309651
Varsomers864309651
Maprs864309651
PheGenIrs864309651
hapmaprs864309651
1000 genomesrs864309651
hgdprs864309651
ensemblrs864309651
gopubmedrs864309651
geneviewrs864309651
scholarrs864309651
googlers864309651
pharmgkbrs864309651
gwascentralrs864309651
openSNPrs864309651
23andMers864309651
23andMe allrs864309651
SNP Nexus

SNPshotrs864309651
SNPdbers864309651
MSV3drs864309651
GWAS Ctlgrs864309651
Max Magnitude0
ClinVar
Risk rs864309651(A;A)
Alt rs864309651(A;A)
Reference Rs864309651(-;-)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene RSPRY1
CLNDBN Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
Reversed 0
HGVS NC_000016.9:g.57264628dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000203230.1,