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rs786200934

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200934(-;-)
Make rs786200934(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position87715006
GenePAPSS2
is asnp
is mentioned by
dbSNPrs786200934
ebirs786200934
HLIrs786200934
Exacrs786200934
Varsomers786200934
Maprs786200934
PheGenIrs786200934
hapmaprs786200934
1000 genomesrs786200934
hgdprs786200934
ensemblrs786200934
gopubmedrs786200934
geneviewrs786200934
scholarrs786200934
googlers786200934
pharmgkbrs786200934
gwascentralrs786200934
openSNPrs786200934
23andMers786200934
23andMe allrs786200934
SNP Nexus

SNPshotrs786200934
SNPdbers786200934
MSV3drs786200934
GWAS Ctlgrs786200934
Max Magnitude0
ClinVar
Risk rs786200934(;)
Alt rs786200934(;)
Reference rs786200934(A;A)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene PAPSS2
CLNDBN Spondyloepimetaphyseal dysplasia, pakistani type
Reversed 0
HGVS NC_000010.10:g.89474763delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032846.3,