rs121908950

Orientation

plus

Stabilized

plus

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

Make rs121908950(A;A)

Make rs121908950(A;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87743589

Gene

PAPSS2

is a	snp
is	mentioned by
dbSNP	rs121908950
dbSNP (classic)	rs121908950
ClinGen	rs121908950
ebi	rs121908950
HLI	rs121908950
Exac	rs121908950
Gnomad	rs121908950
Varsome	rs121908950
LitVar	rs121908950
Map	rs121908950
PheGenI	rs121908950
Biobank	rs121908950
1000 genomes	rs121908950
hgdp	rs121908950
ensembl	rs121908950
geneview	rs121908950
scholar	rs121908950
google	rs121908950
pharmgkb	rs121908950
gwascentral	rs121908950
openSNP	rs121908950
23andMe	rs121908950
SNPshot	rs121908950
SNPdbe	rs121908950
MSV3d	rs121908950
GWAS Ctlg	rs121908950

Max Magnitude

0

OMIM	603005
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908950(A;A)
Alt	rs121908950(A;A)
Reference	Rs121908950(C;C)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia
Variation	info
Gene	PAPSS2
CLNDBN	Spondyloepimetaphyseal dysplasia, pakistani type
Reversed	0
HGVS	NC_000010.10:g.89503346C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007074.2,