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rs121908952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908952(C;T)
Make rs121908952(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87727403
GenePAPSS2
is asnp
is mentioned by
dbSNPrs121908952
ebirs121908952
HLIrs121908952
Exacrs121908952
Varsomers121908952
Maprs121908952
PheGenIrs121908952
hapmaprs121908952
1000 genomesrs121908952
hgdprs121908952
ensemblrs121908952
gopubmedrs121908952
geneviewrs121908952
scholarrs121908952
googlers121908952
pharmgkbrs121908952
gwascentralrs121908952
openSNPrs121908952
23andMers121908952
23andMe allrs121908952
SNP Nexus

SNPshotrs121908952
SNPdbers121908952
MSV3drs121908952
GWAS Ctlgrs121908952
Max Magnitude0
OMIM603005
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908952(T;T)
Alt rs121908952(T;T)
Reference rs121908952(C;C)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89487160C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007076.5,