rs606231241

Orientation

plus

Stabilized

plus

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

Make rs606231241(-;G)

Make rs606231241(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

87713266

Gene

PAPSS2

is a	snp
is	mentioned by
dbSNP	rs606231241
dbSNP (classic)	rs606231241
ClinGen	rs606231241
ebi	rs606231241
HLI	rs606231241
Exac	rs606231241
Gnomad	rs606231241
Varsome	rs606231241
LitVar	rs606231241
Map	rs606231241
PheGenI	rs606231241
Biobank	rs606231241
1000 genomes	rs606231241
hgdp	rs606231241
ensembl	rs606231241
geneview	rs606231241
scholar	rs606231241
google	rs606231241
pharmgkb	rs606231241
gwascentral	rs606231241
openSNP	rs606231241
23andMe	rs606231241
SNPshot	rs606231241
SNPdbe	rs606231241
MSV3d	rs606231241
GWAS Ctlg	rs606231241

Max Magnitude

0

ClinVar
Risk	rs606231241(G;G)
Alt	rs606231241(G;G)
Reference	Rs606231241(-;-)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia
Variation	info
Gene	PAPSS2
CLNDBN	Spondyloepimetaphyseal dysplasia, pakistani type
Reversed	0
HGVS	NC_000010.10:g.89473023dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032842.4,