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rs121908950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908950(A;A)
Make rs121908950(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position87743589
GenePAPSS2
is asnp
is mentioned by
dbSNPrs121908950
ebirs121908950
HLIrs121908950
Exacrs121908950
Varsomers121908950
Maprs121908950
PheGenIrs121908950
hapmaprs121908950
1000 genomesrs121908950
hgdprs121908950
ensemblrs121908950
gopubmedrs121908950
geneviewrs121908950
scholarrs121908950
googlers121908950
pharmgkbrs121908950
gwascentralrs121908950
openSNPrs121908950
23andMers121908950
23andMe allrs121908950
SNP Nexus

SNPshotrs121908950
SNPdbers121908950
MSV3drs121908950
GWAS Ctlgrs121908950
Max Magnitude0
OMIM603005
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908950(A;A)
Alt rs121908950(A;A)
Reference rs121908950(C;C)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89503346C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007074.2,