rs183208638

Orientation

plus

Stabilized

plus

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

Make rs183208638(A;A)

Make rs183208638(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

39672244

Gene

PGAP3

is a	snp
is	mentioned by
dbSNP	rs183208638
dbSNP (classic)	rs183208638
ClinGen	rs183208638
ebi	rs183208638
HLI	rs183208638
Exac	rs183208638
Gnomad	rs183208638
Varsome	rs183208638
LitVar	rs183208638
Map	rs183208638
PheGenI	rs183208638
Biobank	rs183208638
1000 genomes	rs183208638
hgdp	rs183208638
ensembl	rs183208638
geneview	rs183208638
scholar	rs183208638
google	rs183208638
pharmgkb	rs183208638
gwascentral	rs183208638
openSNP	rs183208638
23andMe	rs183208638
SNPshot	rs183208638
SNPdbe	rs183208638
MSV3d	rs183208638
GWAS Ctlg	rs183208638

Max Magnitude

0

ClinVar
Risk	rs183208638(A;A)
Alt	rs183208638(A;A)
Reference	Rs183208638(G;G)
Significance	Pathogenic
Disease	Hyperphosphatasia with mental retardation syndrome 4
Variation	info
Gene	PGAP3
CLNDBN	Hyperphosphatasia with mental retardation syndrome 4
Reversed	0
HGVS	NC_000017.10:g.37828497G>A
CLNSRC
CLNACC	RCV000210275.1,