rs200598755

Orientation

plus

Stabilized

plus

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

Make rs200598755(C;T)

Make rs200598755(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

39673660

Gene

PGAP3

is a	snp
is	mentioned by
dbSNP	rs200598755
dbSNP (classic)	rs200598755
ClinGen	rs200598755
ebi	rs200598755
HLI	rs200598755
Exac	rs200598755
Gnomad	rs200598755
Varsome	rs200598755
LitVar	rs200598755
Map	rs200598755
PheGenI	rs200598755
Biobank	rs200598755
1000 genomes	rs200598755
hgdp	rs200598755
ensembl	rs200598755
geneview	rs200598755
scholar	rs200598755
google	rs200598755
pharmgkb	rs200598755
gwascentral	rs200598755
openSNP	rs200598755
23andMe	rs200598755
SNPshot	rs200598755
SNPdbe	rs200598755
MSV3d	rs200598755
GWAS Ctlg	rs200598755

Max Magnitude

0

ClinVar
Risk	rs200598755(T;T)
Alt	rs200598755(T;T)
Reference	Rs200598755(C;C)
Significance	Pathogenic
Disease	Hyperphosphatasia with mental retardation syndrome 4 not provided
Variation	info
Gene	PGAP3
CLNDBN	Hyperphosphatasia with mental retardation syndrome 4 not provided
Reversed	0
HGVS	NC_000017.10:g.37829913C>T
CLNSRC
CLNACC	RCV000210276.1, RCV000493918.1,