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rs606231243

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231243(-;-)
Make rs606231243(-;CGTA)
Make rs606231243(CGTA;CGTA)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position87714142
GenePAPSS2
is asnp
is mentioned by
dbSNPrs606231243
ebirs606231243
HLIrs606231243
Exacrs606231243
Varsomers606231243
Maprs606231243
PheGenIrs606231243
hapmaprs606231243
1000 genomesrs606231243
hgdprs606231243
ensemblrs606231243
gopubmedrs606231243
geneviewrs606231243
scholarrs606231243
googlers606231243
pharmgkbrs606231243
gwascentralrs606231243
openSNPrs606231243
23andMers606231243
23andMe allrs606231243
SNP Nexus

SNPshotrs606231243
SNPdbers606231243
MSV3drs606231243
GWAS Ctlgrs606231243
Max Magnitude0
ClinVar
Risk rs606231243(ACGT;ACGT)
Alt rs606231243(ACGT;ACGT)
Reference rs606231243(;)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89473896_89473899dupCGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032845.3,