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rs121908951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908951(C;G)
Make rs121908951(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position87709311
GenePAPSS2
is asnp
is mentioned by
dbSNPrs121908951
ebirs121908951
HLIrs121908951
Exacrs121908951
Varsomers121908951
Maprs121908951
PheGenIrs121908951
hapmaprs121908951
1000 genomesrs121908951
hgdprs121908951
ensemblrs121908951
gopubmedrs121908951
geneviewrs121908951
scholarrs121908951
googlers121908951
pharmgkbrs121908951
gwascentralrs121908951
openSNPrs121908951
23andMers121908951
23andMe allrs121908951
SNP Nexus

SNPshotrs121908951
SNPdbers121908951
MSV3drs121908951
GWAS Ctlgrs121908951
Max Magnitude0
OMIM603005
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908951(G;G)
Alt rs121908951(G;G)
Reference rs121908951(C;C)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89469068C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007075.4,