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rs864309652

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309652(G;T)
Make rs864309652(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position57204779
GeneRSPRY1
is asnp
is mentioned by
dbSNPrs864309652
ebirs864309652
HLIrs864309652
Exacrs864309652
Varsomers864309652
Maprs864309652
PheGenIrs864309652
hapmaprs864309652
1000 genomesrs864309652
hgdprs864309652
ensemblrs864309652
gopubmedrs864309652
geneviewrs864309652
scholarrs864309652
googlers864309652
pharmgkbrs864309652
gwascentralrs864309652
openSNPrs864309652
23andMers864309652
23andMe allrs864309652
SNP Nexus

SNPshotrs864309652
SNPdbers864309652
MSV3drs864309652
GWAS Ctlgrs864309652
Max Magnitude0
ClinVar
Risk rs864309652(T;T)
Alt rs864309652(T;T)
Reference rs864309652(G;G)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene RSPRY1
CLNDBN Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
Reversed 0
HGVS NC_000016.9:g.57238691G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203224.1,