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rs606231241

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231241(-;-)
Make rs606231241(-;G)
Make rs606231241(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position87713266
GenePAPSS2
is asnp
is mentioned by
dbSNPrs606231241
ebirs606231241
HLIrs606231241
Exacrs606231241
Varsomers606231241
Maprs606231241
PheGenIrs606231241
hapmaprs606231241
1000 genomesrs606231241
hgdprs606231241
ensemblrs606231241
gopubmedrs606231241
geneviewrs606231241
scholarrs606231241
googlers606231241
pharmgkbrs606231241
gwascentralrs606231241
openSNPrs606231241
23andMers606231241
23andMe allrs606231241
SNP Nexus

SNPshotrs606231241
SNPdbers606231241
MSV3drs606231241
GWAS Ctlgrs606231241
Max Magnitude0
ClinVar
Risk rs606231241(G;G)
Alt rs606231241(G;G)
Reference rs606231241(;)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89473023dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000032842.4,