rs587777252

Orientation

plus

Stabilized

plus

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

Make rs587777252(C;C)

Make rs587777252(C;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

39672852

Gene

PGAP3

is a	snp
is	mentioned by
dbSNP	rs587777252
dbSNP (classic)	rs587777252
ClinGen	rs587777252
ebi	rs587777252
HLI	rs587777252
Exac	rs587777252
Gnomad	rs587777252
Varsome	rs587777252
LitVar	rs587777252
Map	rs587777252
PheGenI	rs587777252
Biobank	rs587777252
1000 genomes	rs587777252
hgdp	rs587777252
ensembl	rs587777252
geneview	rs587777252
scholar	rs587777252
google	rs587777252
pharmgkb	rs587777252
gwascentral	rs587777252
openSNP	rs587777252
23andMe	rs587777252
SNPshot	rs587777252
SNPdbe	rs587777252
MSV3d	rs587777252
GWAS Ctlg	rs587777252

Max Magnitude

0

ClinVar
Risk	rs587777252(C;C)
Alt	rs587777252(C;C)
Reference	Rs587777252(T;T)
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.37829105T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000111464.3, RCV000493877.1,