rs371549948

Orientation

plus

Stabilized

plus

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

Make rs371549948(A;A)

Make rs371549948(A;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

39684715

Gene

PGAP3

is a	snp
is	mentioned by
dbSNP	rs371549948
dbSNP (classic)	rs371549948
ClinGen	rs371549948
ebi	rs371549948
HLI	rs371549948
Exac	rs371549948
Gnomad	rs371549948
Varsome	rs371549948
LitVar	rs371549948
Map	rs371549948
PheGenI	rs371549948
Biobank	rs371549948
1000 genomes	rs371549948
hgdp	rs371549948
ensembl	rs371549948
geneview	rs371549948
scholar	rs371549948
google	rs371549948
pharmgkb	rs371549948
gwascentral	rs371549948
openSNP	rs371549948
23andMe	rs371549948
SNPshot	rs371549948
SNPdbe	rs371549948
MSV3d	rs371549948
GWAS Ctlg	rs371549948

Max Magnitude

0

ClinVar
Risk	rs371549948(A;A) rs371549948(C;C)
Alt	rs371549948(A;A) rs371549948(C;C)
Reference	Rs371549948(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.37840968G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000111465.3,