rs121908951

Orientation

plus

Stabilized

plus

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

Make rs121908951(C;G)

Make rs121908951(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87709311

Gene

PAPSS2

is a	snp
is	mentioned by
dbSNP	rs121908951
dbSNP (classic)	rs121908951
ClinGen	rs121908951
ebi	rs121908951
HLI	rs121908951
Exac	rs121908951
Gnomad	rs121908951
Varsome	rs121908951
LitVar	rs121908951
Map	rs121908951
PheGenI	rs121908951
Biobank	rs121908951
1000 genomes	rs121908951
hgdp	rs121908951
ensembl	rs121908951
geneview	rs121908951
scholar	rs121908951
google	rs121908951
pharmgkb	rs121908951
gwascentral	rs121908951
openSNP	rs121908951
23andMe	rs121908951
SNPshot	rs121908951
SNPdbe	rs121908951
MSV3d	rs121908951
GWAS Ctlg	rs121908951

Max Magnitude

0

OMIM	603005
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908951(G;G)
Alt	rs121908951(G;G)
Reference	Rs121908951(C;C)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia
Variation	info
Gene	PAPSS2
CLNDBN	Spondyloepimetaphyseal dysplasia, pakistani type
Reversed	0
HGVS	NC_000010.10:g.89469068C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007075.4,