rs869312814

Orientation

minus

Stabilized

minus

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

Make rs869312814(A;G)

Make rs869312814(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

39673105

Gene

PGAP3

is a	snp
is	mentioned by
dbSNP	rs869312814
dbSNP (classic)	rs869312814
ClinGen	rs869312814
ebi	rs869312814
HLI	rs869312814
Exac	rs869312814
Gnomad	rs869312814
Varsome	rs869312814
LitVar	rs869312814
Map	rs869312814
PheGenI	rs869312814
Biobank	rs869312814
1000 genomes	rs869312814
hgdp	rs869312814
ensembl	rs869312814
geneview	rs869312814
scholar	rs869312814
google	rs869312814
pharmgkb	rs869312814
gwascentral	rs869312814
openSNP	rs869312814
23andMe	rs869312814
SNPshot	rs869312814
SNPdbe	rs869312814
MSV3d	rs869312814
GWAS Ctlg	rs869312814

Max Magnitude

0

ClinVar
Risk	rs869312814(G;G)
Alt	rs869312814(G;G)
Reference	Rs869312814(A;A)
Significance	Pathogenic
Disease	Hyperphosphatasia with mental retardation syndrome 4
Variation	info
Gene	PGAP3
CLNDBN	Hyperphosphatasia with mental retardation syndrome 4
Reversed	1
HGVS	NC_000017.10:g.37829358T>C
CLNSRC
CLNACC	RCV000210267.1,