rs786200933

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar

Make rs786200933(-;-)

Make rs786200933(-;AG)

Reference

GRCh38.p2 38.2/146

Chromosome

10

Position

87743459

Gene

PAPSS2

is a	snp
is	mentioned by
dbSNP	rs786200933
dbSNP (classic)	rs786200933
ClinGen	rs786200933
ebi	rs786200933
HLI	rs786200933
Exac	rs786200933
Gnomad	rs786200933
Varsome	rs786200933
LitVar	rs786200933
Map	rs786200933
PheGenI	rs786200933
Biobank	rs786200933
1000 genomes	rs786200933
hgdp	rs786200933
ensembl	rs786200933
geneview	rs786200933
scholar	rs786200933
google	rs786200933
pharmgkb	rs786200933
gwascentral	rs786200933
openSNP	rs786200933
23andMe	rs786200933
SNPshot	rs786200933
SNPdbe	rs786200933
MSV3d	rs786200933
GWAS Ctlg	rs786200933

Max Magnitude

0

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,