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rs786200933

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs786200933(-;-)
Make rs786200933(-;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position87743459
GenePAPSS2
is asnp
is mentioned by
dbSNPrs786200933
ebirs786200933
HLIrs786200933
Exacrs786200933
Varsomers786200933
Maprs786200933
PheGenIrs786200933
hapmaprs786200933
1000 genomesrs786200933
hgdprs786200933
ensemblrs786200933
gopubmedrs786200933
geneviewrs786200933
scholarrs786200933
googlers786200933
pharmgkbrs786200933
gwascentralrs786200933
openSNPrs786200933
23andMers786200933
23andMe allrs786200933
SNP Nexus

SNPshotrs786200933
SNPdbers786200933
MSV3drs786200933
GWAS Ctlgrs786200933
Max Magnitude0
ClinVar
Risk rs786200933(;)
Alt rs786200933(;)
Reference rs786200933(AG;AG)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89503216_89503217delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000032844.3,