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rs794727710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727710(G;T)
Make rs794727710(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position87714864
GenePAPSS2
is asnp
is mentioned by
dbSNPrs794727710
dbSNP (classic)rs794727710
ClinGenrs794727710
ebirs794727710
HLIrs794727710
Exacrs794727710
Gnomadrs794727710
Varsomers794727710
LitVarrs794727710
Maprs794727710
PheGenIrs794727710
Biobankrs794727710
1000 genomesrs794727710
hgdprs794727710
ensemblrs794727710
geneviewrs794727710
scholarrs794727710
googlers794727710
pharmgkbrs794727710
gwascentralrs794727710
openSNPrs794727710
23andMers794727710
SNPshotrs794727710
SNPdbers794727710
MSV3drs794727710
GWAS Ctlgrs794727710
Max Magnitude0
ClinVar
Risk rs794727710(T;T)
Alt rs794727710(T;T)
Reference Rs794727710(G;G)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89474621G>T
CLNSRC
CLNACC RCV000178816.1,