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rs797045099

From SNPedia

Orientationplus
Geno Mag Summary
(CATTC;CATTC) 0 common in clinvar
Make rs797045099(-;-)
Make rs797045099(-;ATTCC)
Make rs797045099(ATTCC;ATTCC)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position87745172
GenePAPSS2
is asnp
is mentioned by
dbSNPrs797045099
ebirs797045099
HLIrs797045099
Exacrs797045099
Varsomers797045099
Maprs797045099
PheGenIrs797045099
hapmaprs797045099
1000 genomesrs797045099
hgdprs797045099
ensemblrs797045099
gopubmedrs797045099
geneviewrs797045099
scholarrs797045099
googlers797045099
pharmgkbrs797045099
gwascentralrs797045099
openSNPrs797045099
23andMers797045099
23andMe allrs797045099
SNP Nexus

SNPshotrs797045099
SNPdbers797045099
MSV3drs797045099
GWAS Ctlgrs797045099
Max Magnitude0
ClinVar
Risk rs797045099(;)
Alt rs797045099(;)
Reference rs797045099(CATTC;CATTC)
Significance Probable-Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89504929_89504933delATTCC
CLNSRC
CLNACC RCV000190612.1,