rs121908952

Orientation

plus

Stabilized

plus

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

Make rs121908952(C;T)

Make rs121908952(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87727403

Gene

PAPSS2

is a	snp
is	mentioned by
dbSNP	rs121908952
dbSNP (classic)	rs121908952
ClinGen	rs121908952
ebi	rs121908952
HLI	rs121908952
Exac	rs121908952
Gnomad	rs121908952
Varsome	rs121908952
LitVar	rs121908952
Map	rs121908952
PheGenI	rs121908952
Biobank	rs121908952
1000 genomes	rs121908952
hgdp	rs121908952
ensembl	rs121908952
geneview	rs121908952
scholar	rs121908952
google	rs121908952
pharmgkb	rs121908952
gwascentral	rs121908952
openSNP	rs121908952
23andMe	rs121908952
SNPshot	rs121908952
SNPdbe	rs121908952
MSV3d	rs121908952
GWAS Ctlg	rs121908952

Max Magnitude

0

OMIM	603005
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908952(T;T)
Alt	rs121908952(T;T)
Reference	Rs121908952(C;C)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia
Variation	info
Gene	PAPSS2
CLNDBN	Spondyloepimetaphyseal dysplasia, pakistani type
Reversed	0
HGVS	NC_000010.10:g.89487160C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007076.5,